AustralieFrV1, Istex, Corpus, bibRecord, 001550

Mutation screening of the N‐myc downstream‐regulated gene 1 (NDRG1) in patients with Charcot‐Marie‐Tooth Disease

Identifieur interne : 001550 ( Istex/Corpus ); précédent : 001549; suivant : 001551

Mutation screening of the N‐myc downstream‐regulated gene 1 (NDRG1) in patients with Charcot‐Marie‐Tooth Disease

Auteurs : Michael Hunter ; Rafaëlle Bernard ; Elizabeth Freitas ; Amandine Boyer ; Bharti Morar ; Ian J. Martins ; Ivailo Tournev ; Albena Jordanova ; Velina Guergelcheva ; Boryana Ishpekova ; Ivo Kremensky ; Garth Nicholson ; Beate Schlotter ; Hanns Lochmüller ; Thomas Voit ; Jaume Colomer ; P. K. Thomas ; Nicolas Levy ; Luba Kalaydjieva

Source :

Human Mutation [ 1059-7794 ] ; 2003-08.

RBID : ISTEX:7258682B2B98166EB0A9217CC268895E6D8045E0

English descriptors

Abstract

In a previous study, we have shown that N‐myc downstream‐regulated gene 1 (NDRG1), classified in databases as a tumor suppressor and heavy metal‐response protein, is mutated in hereditary motor and sensory neuropathy Lom (HMSNL), a severe autosomal recessive form of Charcot‐Marie‐Tooth (CMT) disease. The private founder mutation R148X, causing HMSNL in patients of Romani ethnicity, has so far remained the only molecular defect linking NDRG1 to a specific disease phenotype. Here we report the first study aiming to assess the overall contribution of this gene to the pathogenesis of peripheral neuropathies, in cases where the most common causes of CMT disease have been excluded. Sequence analysis of NDRG1 in 104 CMT patients of diverse ethnicity identified one novel disease‐causing mutation, IVS8−1G>A (g.2290787G>A), which affects the splice‐acceptor site of IVS8 and results in the skipping of exon 9. The phenotype of the IVS8−1G>A homozygote was very closely related to that of HMSNL patients. In addition, we have detected homozygosity for the known R148X mutation in two affected individuals. Mutations in NDRG1 thus accounted for 2.88% of our overall group of patients, and for 4.68% of cases with demyelinating neuropathies. No other variants were identified in the coding sequence, whereas 12 single nucleotide polymorphisms were observed in the introns. Hum Mutat 22:129–135, 2003. © 2003 Wiley‐Liss, Inc.

Url:

https://api.istex.fr/document/7258682B2B98166EB0A9217CC268895E6D8045E0/fulltext/pdf

DOI: 10.1002/humu.10240

Links to Exploration step

ISTEX:7258682B2B98166EB0A9217CC268895E6D8045E0

Le document en format XML

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<author><name sortKey="Hunter, Michael" sort="Hunter, Michael" uniqKey="Hunter M" first="Michael" last="Hunter">Michael Hunter</name>
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<author><name sortKey="Bernard, Rafaelle" sort="Bernard, Rafaelle" uniqKey="Bernard R" first="Rafaëlle" last="Bernard">Rafaëlle Bernard</name>
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<author><name sortKey="Guergelcheva, Velina" sort="Guergelcheva, Velina" uniqKey="Guergelcheva V" first="Velina" last="Guergelcheva">Velina Guergelcheva</name>
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<author><name sortKey="Ishpekova, Boryana" sort="Ishpekova, Boryana" uniqKey="Ishpekova B" first="Boryana" last="Ishpekova">Boryana Ishpekova</name>
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<author><name sortKey="Kremensky, Ivo" sort="Kremensky, Ivo" uniqKey="Kremensky I" first="Ivo" last="Kremensky">Ivo Kremensky</name>
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<author><name sortKey="Nicholson, Garth" sort="Nicholson, Garth" uniqKey="Nicholson G" first="Garth" last="Nicholson">Garth Nicholson</name>
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<author><name sortKey="Schlotter, Beate" sort="Schlotter, Beate" uniqKey="Schlotter B" first="Beate" last="Schlotter">Beate Schlotter</name>
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<author><name sortKey="Lochmuller, Hanns" sort="Lochmuller, Hanns" uniqKey="Lochmuller H" first="Hanns" last="Lochmüller">Hanns Lochmüller</name>
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</affiliation>
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<author><name sortKey="Voit, Thomas" sort="Voit, Thomas" uniqKey="Voit T" first="Thomas" last="Voit">Thomas Voit</name>
<affiliation><mods:affiliation>Department of Pediatrics, University Hospital Essen, Essen, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Colomer, Jaume" sort="Colomer, Jaume" uniqKey="Colomer J" first="Jaume" last="Colomer">Jaume Colomer</name>
<affiliation><mods:affiliation>Hospital Sant Joan de Déu, Barcelona, Spain</mods:affiliation>
</affiliation>
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<author><name sortKey="Thomas, P K" sort="Thomas, P K" uniqKey="Thomas P" first="P. K." last="Thomas">P. K. Thomas</name>
<affiliation><mods:affiliation>Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK</mods:affiliation>
</affiliation>
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<author><name sortKey="Levy, Nicolas" sort="Levy, Nicolas" uniqKey="Levy N" first="Nicolas" last="Levy">Nicolas Levy</name>
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</affiliation>
<affiliation><mods:affiliation>Inserm U491, Génétique Médicale et Developpement, Faculté de Médecine Timone, Marseille, France</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Kalaydjieva, Luba" sort="Kalaydjieva, Luba" uniqKey="Kalaydjieva L" first="Luba" last="Kalaydjieva">Luba Kalaydjieva</name>
<affiliation><mods:affiliation>Laboratory of Molecular Genetics, Western Australian Institute for Medical Research and Centre for Medical Research, The University of Western Australia, Nedlands, Australia</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>E-mail: luba@cyllene.uwa.edu.au</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence address: Western Australian Institute for Medical Research and Centre for Medical Research, The University of Western Australia, “B” Block QE II Medical Centre, Hospital Avenue, Nedlands WA 6008, Australia</mods:affiliation>
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</title>
<author><name sortKey="Hunter, Michael" sort="Hunter, Michael" uniqKey="Hunter M" first="Michael" last="Hunter">Michael Hunter</name>
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</affiliation>
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<author><name sortKey="Bernard, Rafaelle" sort="Bernard, Rafaelle" uniqKey="Bernard R" first="Rafaëlle" last="Bernard">Rafaëlle Bernard</name>
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<author><name sortKey="Freitas, Elizabeth" sort="Freitas, Elizabeth" uniqKey="Freitas E" first="Elizabeth" last="Freitas">Elizabeth Freitas</name>
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</affiliation>
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<author><name sortKey="Boyer, Amandine" sort="Boyer, Amandine" uniqKey="Boyer A" first="Amandine" last="Boyer">Amandine Boyer</name>
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</affiliation>
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<author><name sortKey="Morar, Bharti" sort="Morar, Bharti" uniqKey="Morar B" first="Bharti" last="Morar">Bharti Morar</name>
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</affiliation>
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<author><name sortKey="Martins, Ian J" sort="Martins, Ian J" uniqKey="Martins I" first="Ian J." last="Martins">Ian J. Martins</name>
<affiliation><mods:affiliation>Laboratory of Molecular Genetics, Western Australian Institute for Medical Research and Centre for Medical Research, The University of Western Australia, Nedlands, Australia</mods:affiliation>
</affiliation>
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<author><name sortKey="Tournev, Ivailo" sort="Tournev, Ivailo" uniqKey="Tournev I" first="Ivailo" last="Tournev">Ivailo Tournev</name>
<affiliation><mods:affiliation>Department of Neurology, Medical University, Sofia, Bulgaria</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Foundation for Health Problems of Ethnic Minorities, Sofia, Bulgaria</mods:affiliation>
</affiliation>
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<author><name sortKey="Jordanova, Albena" sort="Jordanova, Albena" uniqKey="Jordanova A" first="Albena" last="Jordanova">Albena Jordanova</name>
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</affiliation>
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<author><name sortKey="Guergelcheva, Velina" sort="Guergelcheva, Velina" uniqKey="Guergelcheva V" first="Velina" last="Guergelcheva">Velina Guergelcheva</name>
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</affiliation>
</author>
<author><name sortKey="Ishpekova, Boryana" sort="Ishpekova, Boryana" uniqKey="Ishpekova B" first="Boryana" last="Ishpekova">Boryana Ishpekova</name>
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</affiliation>
</author>
<author><name sortKey="Kremensky, Ivo" sort="Kremensky, Ivo" uniqKey="Kremensky I" first="Ivo" last="Kremensky">Ivo Kremensky</name>
<affiliation><mods:affiliation>Laboratory of Molecular Pathology, Medical University, Sofia, Bulgaria</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Nicholson, Garth" sort="Nicholson, Garth" uniqKey="Nicholson G" first="Garth" last="Nicholson">Garth Nicholson</name>
<affiliation><mods:affiliation>Neurobiology Department, ANZAC Research Institute, University of Sydney, Concord Hospital, Concord, Australia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Schlotter, Beate" sort="Schlotter, Beate" uniqKey="Schlotter B" first="Beate" last="Schlotter">Beate Schlotter</name>
<affiliation><mods:affiliation>Friedrich‐Baur Institute, Ludwig‐Maximilians University, Munich, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Lochmuller, Hanns" sort="Lochmuller, Hanns" uniqKey="Lochmuller H" first="Hanns" last="Lochmüller">Hanns Lochmüller</name>
<affiliation><mods:affiliation>Friedrich‐Baur Institute, Ludwig‐Maximilians University, Munich, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Voit, Thomas" sort="Voit, Thomas" uniqKey="Voit T" first="Thomas" last="Voit">Thomas Voit</name>
<affiliation><mods:affiliation>Department of Pediatrics, University Hospital Essen, Essen, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Colomer, Jaume" sort="Colomer, Jaume" uniqKey="Colomer J" first="Jaume" last="Colomer">Jaume Colomer</name>
<affiliation><mods:affiliation>Hospital Sant Joan de Déu, Barcelona, Spain</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Thomas, P K" sort="Thomas, P K" uniqKey="Thomas P" first="P. K." last="Thomas">P. K. Thomas</name>
<affiliation><mods:affiliation>Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Levy, Nicolas" sort="Levy, Nicolas" uniqKey="Levy N" first="Nicolas" last="Levy">Nicolas Levy</name>
<affiliation><mods:affiliation>Laboratoire de Génétique Moléculaire, Département de Génétique Médicale, Hôpital d'enfants de la Timone, Marseille, France</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Inserm U491, Génétique Médicale et Developpement, Faculté de Médecine Timone, Marseille, France</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Kalaydjieva, Luba" sort="Kalaydjieva, Luba" uniqKey="Kalaydjieva L" first="Luba" last="Kalaydjieva">Luba Kalaydjieva</name>
<affiliation><mods:affiliation>Laboratory of Molecular Genetics, Western Australian Institute for Medical Research and Centre for Medical Research, The University of Western Australia, Nedlands, Australia</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>E-mail: luba@cyllene.uwa.edu.au</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence address: Western Australian Institute for Medical Research and Centre for Medical Research, The University of Western Australia, “B” Block QE II Medical Centre, Hospital Avenue, Nedlands WA 6008, Australia</mods:affiliation>
</affiliation>
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<term>Cellular stress</term>
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<term>Coding sequence</term>
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<term>Disease table</term>
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<term>Gene</term>
<term>Genetique medicale</term>
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<term>Hereditary motor</term>
<term>High degree</term>
<term>Hmsnl</term>
<term>Homozygous state</term>
<term>Human genes</term>
<term>Intronic sequences</term>
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<term>Lower limbs</term>
<term>Lupski</term>
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<term>Medical university</term>
<term>Molecular pathogenesis</term>
<term>Mutation</term>
<term>Mutation screening</term>
<term>Ndrg1</term>
<term>Ndrg1 coding sequence</term>
<term>Ndrg1 mutations</term>
<term>Neuropathy</term>
<term>Neuropathy type</term>
<term>Novel demyelinating neuropathy</term>
<term>Novel gene</term>
<term>Novel mutation</term>
<term>Nucleotide</term>
<term>Nucleotide diversity</term>
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<term>Peripheral neuropathies</term>
<term>Peripheral neuropathy</term>
<term>Perkin biosystems</term>
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<term>Recessive</term>
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<term>Same time</term>
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<term>Sequence analysis</term>
<term>Sequence variant</term>
<term>Sequence variants</term>
<term>Sequence variation</term>
<term>Sequencing</term>
<term>Sequencing analysis</term>
<term>Single nucleotide polymorphisms</term>
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<term>Tumor suppression</term>
<term>Unique role</term>
<term>Unrelated individuals</term>
<term>Variant</term>
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<term>Autosomal</term>
<term>Autosomal recessive</term>
<term>Cdna</term>
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<term>Clinical phenotypes</term>
<term>Coding</term>
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<term>Coding sequence</term>
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<term>Database</term>
<term>Demyelinating</term>
<term>Demyelinating neuropathies</term>
<term>Different mutations</term>
<term>Differential display analysis</term>
<term>Disease table</term>
<term>Early growth response</term>
<term>Early onset</term>
<term>Exon</term>
<term>Founder mutation</term>
<term>Gene</term>
<term>Genetique medicale</term>
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<term>Human genes</term>
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<term>Medical research</term>
<term>Medical university</term>
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<term>Mutation</term>
<term>Mutation screening</term>
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<term>Peripheral neuropathies</term>
<term>Peripheral neuropathy</term>
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<term>Recessive</term>
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<term>Same time</term>
<term>Sensory neuropathy</term>
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<term>Sequence variant</term>
<term>Sequence variants</term>
<term>Sequence variation</term>
<term>Sequencing</term>
<term>Sequencing analysis</term>
<term>Single nucleotide polymorphisms</term>
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<front><div type="abstract" xml:lang="en">In a previous study, we have shown that N‐myc downstream‐regulated gene 1 (NDRG1), classified in databases as a tumor suppressor and heavy metal‐response protein, is mutated in hereditary motor and sensory neuropathy Lom (HMSNL), a severe autosomal recessive form of Charcot‐Marie‐Tooth (CMT) disease. The private founder mutation R148X, causing HMSNL in patients of Romani ethnicity, has so far remained the only molecular defect linking NDRG1 to a specific disease phenotype. Here we report the first study aiming to assess the overall contribution of this gene to the pathogenesis of peripheral neuropathies, in cases where the most common causes of CMT disease have been excluded. Sequence analysis of NDRG1 in 104 CMT patients of diverse ethnicity identified one novel disease‐causing mutation, IVS8−1G>A (g.2290787G>A), which affects the splice‐acceptor site of IVS8 and results in the skipping of exon 9. The phenotype of the IVS8−1G>A homozygote was very closely related to that of HMSNL patients. In addition, we have detected homozygosity for the known R148X mutation in two affected individuals. Mutations in NDRG1 thus accounted for 2.88% of our overall group of patients, and for 4.68% of cases with demyelinating neuropathies. No other variants were identified in the coding sequence, whereas 12 single nucleotide polymorphisms were observed in the introns. Hum Mutat 22:129–135, 2003. © 2003 Wiley‐Liss, Inc.</div>
</front>
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<json:item><name>Ian J. Martins</name>
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<json:item><name>Ivailo Tournev</name>
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<json:item><name>Albena Jordanova</name>
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<json:item><name>Beate Schlotter</name>
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<json:item><name>Hanns Lochmüller</name>
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<json:item><name>Thomas Voit</name>
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<json:item><name>Jaume Colomer</name>
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<json:item><name>P.K. Thomas</name>
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<json:item><name>Nicolas Levy</name>
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</json:item>
<json:item><name>Luba Kalaydjieva</name>
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<value>N‐myc downstream regulated gene 1</value>
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<value>Charcot‐Marie‐Tooth Disease</value>
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<value>CMT</value>
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<json:item><lang><json:string>eng</json:string>
</lang>
<value>neuropathy</value>
</json:item>
<json:item><lang><json:string>eng</json:string>
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<value>hereditary motor and sensory neuropathy, Lom</value>
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<json:item><lang><json:string>eng</json:string>
</lang>
<value>HMSNL</value>
</json:item>
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</lang>
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<abstract>In a previous study, we have shown that N‐myc downstream‐regulated gene 1 (NDRG1), classified in databases as a tumor suppressor and heavy metal‐response protein, is mutated in hereditary motor and sensory neuropathy Lom (HMSNL), a severe autosomal recessive form of Charcot‐Marie‐Tooth (CMT) disease. The private founder mutation R148X, causing HMSNL in patients of Romani ethnicity, has so far remained the only molecular defect linking NDRG1 to a specific disease phenotype. Here we report the first study aiming to assess the overall contribution of this gene to the pathogenesis of peripheral neuropathies, in cases where the most common causes of CMT disease have been excluded. Sequence analysis of NDRG1 in 104 CMT patients of diverse ethnicity identified one novel disease‐causing mutation, IVS8−1G>A (g.2290787G>A), which affects the splice‐acceptor site of IVS8 and results in the skipping of exon 9. The phenotype of the IVS8−1G>A homozygote was very closely related to that of HMSNL patients. In addition, we have detected homozygosity for the known R148X mutation in two affected individuals. Mutations in NDRG1 thus accounted for 2.88% of our overall group of patients, and for 4.68% of cases with demyelinating neuropathies. No other variants were identified in the coding sequence, whereas 12 single nucleotide polymorphisms were observed in the introns. Hum Mutat 22:129–135, 2003. © 2003 Wiley‐Liss, Inc.</abstract>
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<title level="a" type="short" xml:lang="en">MUTATION SCREENING OF NDRG1 IN CMT DISEASE</title>
<author xml:id="author-0000"><persName><forename type="first">Michael</forename>
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<affiliation>Laboratory of Molecular Genetics, Western Australian Institute for Medical Research and Centre for Medical Research, The University of Western Australia, Nedlands, Australia<address><country key="AU"></country>
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<note type="foot">Michael Hunter and Rafaëlle Bernard contributed equally to this work.</note>
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<author xml:id="author-0001"><persName><forename type="first">Rafaëlle</forename>
<surname>Bernard</surname>
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<affiliation>Laboratoire de Génétique Moléculaire, Département de Génétique Médicale, Hôpital d'enfants de la Timone, Marseille, France<address><country key="FR"></country>
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<note type="foot">Michael Hunter and Rafaëlle Bernard contributed equally to this work.</note>
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<author xml:id="author-0002"><persName><forename type="first">Elizabeth</forename>
<surname>Freitas</surname>
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<affiliation>Centre for Human Genetics, Edith Cowan University, Joondalup, Australia<address><country key="AU"></country>
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<author xml:id="author-0003"><persName><forename type="first">Amandine</forename>
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<affiliation>Laboratoire de Génétique Moléculaire, Département de Génétique Médicale, Hôpital d'enfants de la Timone, Marseille, France<address><country key="FR"></country>
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<author xml:id="author-0004"><persName><forename type="first">Bharti</forename>
<surname>Morar</surname>
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<affiliation>Laboratory of Molecular Genetics, Western Australian Institute for Medical Research and Centre for Medical Research, The University of Western Australia, Nedlands, Australia<address><country key="AU"></country>
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<author xml:id="author-0005"><persName><forename type="first">Ian J.</forename>
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<affiliation>Laboratory of Molecular Genetics, Western Australian Institute for Medical Research and Centre for Medical Research, The University of Western Australia, Nedlands, Australia<address><country key="AU"></country>
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<author xml:id="author-0006"><persName><forename type="first">Ivailo</forename>
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<affiliation>Department of Neurology, Medical University, Sofia, Bulgaria<address><country key="BG"></country>
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<affiliation>Foundation for Health Problems of Ethnic Minorities, Sofia, Bulgaria<address><country key="BG"></country>
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<author xml:id="author-0007"><persName><forename type="first">Albena</forename>
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<author xml:id="author-0008"><persName><forename type="first">Velina</forename>
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<affiliation>Department of Neurology, Medical University, Sofia, Bulgaria<address><country key="BG"></country>
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<author xml:id="author-0009"><persName><forename type="first">Boryana</forename>
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</affiliation>
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<author xml:id="author-0010"><persName><forename type="first">Ivo</forename>
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<author xml:id="author-0011"><persName><forename type="first">Garth</forename>
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<p>In a previous study, we have shown that N‐myc downstream‐regulated gene 1 (<hi rend="italic">NDRG1</hi>
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 thus accounted for 2.88% of our overall group of patients, and for 4.68% of cases with demyelinating neuropathies. No other variants were identified in the coding sequence, whereas 12 single nucleotide polymorphisms were observed in the introns. Hum Mutat 22:129–135, 2003. © 2003 Wiley‐Liss, Inc.</p>
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<p>In a previous study, we have shown that N‐myc downstream‐regulated gene 1 (<i>NDRG1</i>
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 thus accounted for 2.88% of our overall group of patients, and for 4.68% of cases with demyelinating neuropathies. No other variants were identified in the coding sequence, whereas 12 single nucleotide polymorphisms were observed in the introns. Hum Mutat 22:129–135, 2003. © 2003 Wiley‐Liss, Inc.</p>
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<abstract lang="en">In a previous study, we have shown that N‐myc downstream‐regulated gene 1 (NDRG1), classified in databases as a tumor suppressor and heavy metal‐response protein, is mutated in hereditary motor and sensory neuropathy Lom (HMSNL), a severe autosomal recessive form of Charcot‐Marie‐Tooth (CMT) disease. The private founder mutation R148X, causing HMSNL in patients of Romani ethnicity, has so far remained the only molecular defect linking NDRG1 to a specific disease phenotype. Here we report the first study aiming to assess the overall contribution of this gene to the pathogenesis of peripheral neuropathies, in cases where the most common causes of CMT disease have been excluded. Sequence analysis of NDRG1 in 104 CMT patients of diverse ethnicity identified one novel disease‐causing mutation, IVS8−1G>A (g.2290787G>A), which affects the splice‐acceptor site of IVS8 and results in the skipping of exon 9. The phenotype of the IVS8−1G>A homozygote was very closely related to that of HMSNL patients. In addition, we have detected homozygosity for the known R148X mutation in two affected individuals. Mutations in NDRG1 thus accounted for 2.88% of our overall group of patients, and for 4.68% of cases with demyelinating neuropathies. No other variants were identified in the coding sequence, whereas 12 single nucleotide polymorphisms were observed in the introns. Hum Mutat 22:129–135, 2003. © 2003 Wiley‐Liss, Inc.</abstract>
<note type="content">*Communicated by Christine van Broeckhoven</note>
<note type="funding">Australian National Health and Medical Research Council</note>
<note type="funding">Muscular Dystrophy Association of the United States of America</note>
<note type="funding">Wellcome Trust</note>
<note type="funding">the Assistance‐Publique des Hôpitaux de Marseille</note>
<note type="funding">Association Méditerranéenne pour la Recherche en Génétique</note>
<note type="funding">Research Fund of the Medical University in Sofia</note>
<note type="funding">Bulgarian Ministry of Science and Education</note>
<subject lang="en"><genre>keywords</genre>
<topic>N‐myc downstream regulated gene 1</topic>
<topic>NDRG1</topic>
<topic>Charcot‐Marie‐Tooth Disease</topic>
<topic>CMT</topic>
<topic>neuropathy</topic>
<topic>hereditary motor and sensory neuropathy, Lom</topic>
<topic>HMSNL</topic>
<topic>SNP</topic>
</subject>
<relatedItem type="host"><titleInfo><title>Human Mutation</title>
</titleInfo>
<titleInfo type="abbreviated"><title>Hum. Mutat.</title>
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<subject><genre>article-category</genre>
<topic>Research Article</topic>
</subject>
<identifier type="ISSN">1059-7794</identifier>
<identifier type="eISSN">1098-1004</identifier>
<identifier type="DOI">10.1002/(ISSN)1098-1004</identifier>
<identifier type="PublisherID">HUMU</identifier>
<part><date>2003</date>
<detail type="volume"><caption>vol.</caption>
<number>22</number>
</detail>
<detail type="issue"><caption>no.</caption>
<number>2</number>
</detail>
<extent unit="pages"><start>129</start>
<end>135</end>
<total>7</total>
</extent>
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<identifier type="ark">ark:/67375/WNG-LFMF1HP1-W</identifier>
<identifier type="DOI">10.1002/humu.10240</identifier>
<identifier type="ArticleID">HUMU10240</identifier>
<accessCondition type="use and reproduction" contentType="copyright">Copyright © 2003 Wiley‐Liss, Inc.</accessCondition>
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Mutation screening of the N‐myc downstream‐regulated gene 1 (NDRG1) in patients with Charcot‐Marie‐Tooth Disease

Mutation screening of the N‐myc downstream‐regulated gene 1 (NDRG1) in patients with Charcot‐Marie‐Tooth Disease

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