AustralieFrV1, Main, Exploration, bibRecord, 001842

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

Identifieur interne : 001842 ( Main/Exploration ); précédent : 001841; suivant : 001843

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

Auteurs : Metodi D. Metodiev [France] ; Kyle Thompson [Royaume-Uni] ; Charlotte L. Alston [Royaume-Uni] ; Andrew A. M. Morris [Royaume-Uni] ; Langping He [Royaume-Uni] ; Zarah Assouline [France] ; Marlène Rio [France] ; Nadia Bahi-Buisson [France] ; Angela Pyle [Royaume-Uni] ; Helen Griffin [Royaume-Uni] ; Stefan Siira [Australie] ; Aleksandra Filipovska [Australie] ; Arnold Munnich [France] ; Patrick F. Chinnery [Royaume-Uni] ; Robert Mcfarland [Royaume-Uni] ; Agnès Rötig [France] ; Robert W. Taylor [Royaume-Uni]

Source :

American Journal of Human Genetics [ 0002-9297 ] ; 2016.

RBID : PMC:4863561

Descripteurs français

KwdFr :
- ARN (génétique), ARN (métabolisme), ARN de transfert (génétique), Biosynthèse des protéines (physiologie), Femelle, Gènes récessifs (génétique), Humains, Maladies mitochondriales (anatomopathologie), Maladies mitochondriales (étiologie), Maturation post-transcriptionnelle des ARN (génétique), Methyltransferases (génétique), Mitochondries (métabolisme), Mutation (génétique), Mâle, Nouveau-né, Pedigree, Ribonuclease P (génétique), Similitude de séquences d'acides aminés, Séquence d'acides aminés, Transfert d'électrons (génétique).
MESH :
- anatomopathologie : Maladies mitochondriales.
- génétique : ARN, ARN de transfert, Gènes récessifs, Maturation post-transcriptionnelle des ARN, Methyltransferases, Mutation, Ribonuclease P, Transfert d'électrons.
- métabolisme : ARN, Mitochondries.
- physiologie : Biosynthèse des protéines.
- étiologie : Maladies mitochondriales.
- Femelle, Humains, Mâle, Nouveau-né, Pedigree, Similitude de séquences d'acides aminés, Séquence d'acides aminés.

English descriptors

KwdEn :
- Amino Acid Sequence, Electron Transport (genetics), Female, Genes, Recessive (genetics), Humans, Infant, Newborn, Male, Methyltransferases (genetics), Mitochondria (metabolism), Mitochondrial Diseases (etiology), Mitochondrial Diseases (pathology), Mutation (genetics), Pedigree, Protein Biosynthesis (physiology), RNA (genetics), RNA (metabolism), RNA Processing, Post-Transcriptional (genetics), RNA, Transfer (genetics), Ribonuclease P (genetics), Sequence Homology, Amino Acid.
MESH :
- chemical , genetics : Methyltransferases, RNA, RNA, Transfer, Ribonuclease P.
- etiology : Mitochondrial Diseases.
- genetics : Electron Transport, Genes, Recessive, Mutation, RNA Processing, Post-Transcriptional.
- metabolism : Mitochondria, RNA.
- pathology : Mitochondrial Diseases.
- physiology : Protein Biosynthesis.
- Amino Acid Sequence, Female, Humans, Infant, Newborn, Male, Pedigree, Sequence Homology, Amino Acid.

Abstract

Mitochondrial disorders are clinically and genetically diverse, with mutations in mitochondrial or nuclear genes able to cause defects in mitochondrial gene expression. Recently, mutations in several genes encoding factors involved in mt-tRNA processing have been identified to cause mitochondrial disease. Using whole-exome sequencing, we identified mutations in TRMT10C (encoding the mitochondrial RNase P protein 1 [MRPP1]) in two unrelated individuals who presented at birth with lactic acidosis, hypotonia, feeding difficulties, and deafness. Both individuals died at 5 months after respiratory failure. MRPP1, along with MRPP2 and MRPP3, form the mitochondrial ribonuclease P (mt-RNase P) complex that cleaves the 5′ ends of mt-tRNAs from polycistronic precursor transcripts. Additionally, a stable complex of MRPP1 and MRPP2 has m¹R9 methyltransferase activity, which methylates mt-tRNAs at position 9 and is vital for folding mt-tRNAs into their correct tertiary structures. Analyses of fibroblasts from affected individuals harboring TRMT10C missense variants revealed decreased protein levels of MRPP1 and an increase in mt-RNA precursors indicative of impaired mt-RNA processing and defective mitochondrial protein synthesis. The pathogenicity of the detected variants—compound heterozygous c.542G>T (p.Arg181Leu) and c.814A>G (p.Thr272Ala) changes in subject 1 and a homozygous c.542G>T (p.Arg181Leu) variant in subject 2—was validated by the functional rescue of mt-RNA processing and mitochondrial protein synthesis defects after lentiviral transduction of wild-type TRMT10C. Our study suggests that these variants affect MRPP1 protein stability and mt-tRNA processing without affecting m¹R9 methyltransferase activity, identifying mutations in TRMT10C as a cause of mitochondrial disease and highlighting the importance of RNA processing for correct mitochondrial function.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863561

DOI: 10.1016/j.ajhg.2016.03.010
PubMed: 27132592
PubMed Central: 4863561

Affiliations:

Le document en format XML

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 Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies</title>
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<author><name sortKey="Taylor, Robert W" sort="Taylor, Robert W" uniqKey="Taylor R" first="Robert W." last="Taylor">Robert W. Taylor</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Recessive Mutations in <italic>TRMT10C</italic>
 Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies</title>
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<author><name sortKey="Alston, Charlotte L" sort="Alston, Charlotte L" uniqKey="Alston C" first="Charlotte L." last="Alston">Charlotte L. Alston</name>
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<author><name sortKey="He, Langping" sort="He, Langping" uniqKey="He L" first="Langping" last="He">Langping He</name>
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<author><name sortKey="Assouline, Zarah" sort="Assouline, Zarah" uniqKey="Assouline Z" first="Zarah" last="Assouline">Zarah Assouline</name>
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<country xml:lang="fr">France</country>
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<author><name sortKey="Rio, Marlene" sort="Rio, Marlene" uniqKey="Rio M" first="Marlène" last="Rio">Marlène Rio</name>
<affiliation wicri:level="1"><nlm:aff id="aff5">Departments of Pediatric, Neurology and Genetics, Hôpital Necker-Enfants-Malades, 75015 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Departments of Pediatric, Neurology and Genetics, Hôpital Necker-Enfants-Malades, 75015 Paris</wicri:regionArea>
<wicri:noRegion>75015 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bahi Buisson, Nadia" sort="Bahi Buisson, Nadia" uniqKey="Bahi Buisson N" first="Nadia" last="Bahi-Buisson">Nadia Bahi-Buisson</name>
<affiliation wicri:level="1"><nlm:aff id="aff5">Departments of Pediatric, Neurology and Genetics, Hôpital Necker-Enfants-Malades, 75015 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Departments of Pediatric, Neurology and Genetics, Hôpital Necker-Enfants-Malades, 75015 Paris</wicri:regionArea>
<wicri:noRegion>75015 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Pyle, Angela" sort="Pyle, Angela" uniqKey="Pyle A" first="Angela" last="Pyle">Angela Pyle</name>
<affiliation wicri:level="1"><nlm:aff id="aff6">Institute of Genetic Medicine, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Institute of Genetic Medicine, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne NE1 3BZ</wicri:regionArea>
<wicri:noRegion>Newcastle upon Tyne NE1 3BZ</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Griffin, Helen" sort="Griffin, Helen" uniqKey="Griffin H" first="Helen" last="Griffin">Helen Griffin</name>
<affiliation wicri:level="1"><nlm:aff id="aff6">Institute of Genetic Medicine, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Institute of Genetic Medicine, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne NE1 3BZ</wicri:regionArea>
<wicri:noRegion>Newcastle upon Tyne NE1 3BZ</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Siira, Stefan" sort="Siira, Stefan" uniqKey="Siira S" first="Stefan" last="Siira">Stefan Siira</name>
<affiliation wicri:level="1"><nlm:aff id="aff7">Harry Perkins Institute of Medical Research, Centre for Medical Research and School of Chemistry and Biochemistry, The University of Western Australia, Nedlands, WA 6009, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Harry Perkins Institute of Medical Research, Centre for Medical Research and School of Chemistry and Biochemistry, The University of Western Australia, Nedlands, WA 6009</wicri:regionArea>
<wicri:noRegion>WA 6009</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Filipovska, Aleksandra" sort="Filipovska, Aleksandra" uniqKey="Filipovska A" first="Aleksandra" last="Filipovska">Aleksandra Filipovska</name>
<affiliation wicri:level="1"><nlm:aff id="aff7">Harry Perkins Institute of Medical Research, Centre for Medical Research and School of Chemistry and Biochemistry, The University of Western Australia, Nedlands, WA 6009, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Harry Perkins Institute of Medical Research, Centre for Medical Research and School of Chemistry and Biochemistry, The University of Western Australia, Nedlands, WA 6009</wicri:regionArea>
<wicri:noRegion>WA 6009</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, 75015 Paris</wicri:regionArea>
<wicri:noRegion>75015 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff5">Departments of Pediatric, Neurology and Genetics, Hôpital Necker-Enfants-Malades, 75015 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Departments of Pediatric, Neurology and Genetics, Hôpital Necker-Enfants-Malades, 75015 Paris</wicri:regionArea>
<wicri:noRegion>75015 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F." last="Chinnery">Patrick F. Chinnery</name>
<affiliation wicri:level="1"><nlm:aff id="aff6">Institute of Genetic Medicine, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Institute of Genetic Medicine, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne NE1 3BZ</wicri:regionArea>
<wicri:noRegion>Newcastle upon Tyne NE1 3BZ</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff8">Medical Research Council Mitochondrial Biology Unit, Cambridge CB2 0XY, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Medical Research Council Mitochondrial Biology Unit, Cambridge CB2 0XY</wicri:regionArea>
<wicri:noRegion>Cambridge CB2 0XY</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff9">Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge CB2 0SP, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge CB2 0SP</wicri:regionArea>
<orgName type="university">Université de Cambridge</orgName>
<placeName><settlement type="city">Cambridge</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Angleterre de l'Est</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mcfarland, Robert" sort="Mcfarland, Robert" uniqKey="Mcfarland R" first="Robert" last="Mcfarland">Robert Mcfarland</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Institute of Neuroscience, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne NE2 4HH, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Institute of Neuroscience, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne NE2 4HH</wicri:regionArea>
<wicri:noRegion>Newcastle upon Tyne NE2 4HH</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Rotig, Agnes" sort="Rotig, Agnes" uniqKey="Rotig A" first="Agnès" last="Rötig">Agnès Rötig</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, 75015 Paris</wicri:regionArea>
<wicri:noRegion>75015 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Taylor, Robert W" sort="Taylor, Robert W" uniqKey="Taylor R" first="Robert W." last="Taylor">Robert W. Taylor</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Institute of Neuroscience, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne NE2 4HH, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Institute of Neuroscience, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne NE2 4HH</wicri:regionArea>
<wicri:noRegion>Newcastle upon Tyne NE2 4HH</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j">American Journal of Human Genetics</title>
<idno type="ISSN">0002-9297</idno>
<idno type="eISSN">1537-6605</idno>
<imprint><date when="2016">2016</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Amino Acid Sequence</term>
<term>Electron Transport (genetics)</term>
<term>Female</term>
<term>Genes, Recessive (genetics)</term>
<term>Humans</term>
<term>Infant, Newborn</term>
<term>Male</term>
<term>Methyltransferases (genetics)</term>
<term>Mitochondria (metabolism)</term>
<term>Mitochondrial Diseases (etiology)</term>
<term>Mitochondrial Diseases (pathology)</term>
<term>Mutation (genetics)</term>
<term>Pedigree</term>
<term>Protein Biosynthesis (physiology)</term>
<term>RNA (genetics)</term>
<term>RNA (metabolism)</term>
<term>RNA Processing, Post-Transcriptional (genetics)</term>
<term>RNA, Transfer (genetics)</term>
<term>Ribonuclease P (genetics)</term>
<term>Sequence Homology, Amino Acid</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>ARN (génétique)</term>
<term>ARN (métabolisme)</term>
<term>ARN de transfert (génétique)</term>
<term>Biosynthèse des protéines (physiologie)</term>
<term>Femelle</term>
<term>Gènes récessifs (génétique)</term>
<term>Humains</term>
<term>Maladies mitochondriales (anatomopathologie)</term>
<term>Maladies mitochondriales (étiologie)</term>
<term>Maturation post-transcriptionnelle des ARN (génétique)</term>
<term>Methyltransferases (génétique)</term>
<term>Mitochondries (métabolisme)</term>
<term>Mutation (génétique)</term>
<term>Mâle</term>
<term>Nouveau-né</term>
<term>Pedigree</term>
<term>Ribonuclease P (génétique)</term>
<term>Similitude de séquences d'acides aminés</term>
<term>Séquence d'acides aminés</term>
<term>Transfert d'électrons (génétique)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Methyltransferases</term>
<term>RNA</term>
<term>RNA, Transfer</term>
<term>Ribonuclease P</term>
</keywords>
<keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Maladies mitochondriales</term>
</keywords>
<keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Mitochondrial Diseases</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Electron Transport</term>
<term>Genes, Recessive</term>
<term>Mutation</term>
<term>RNA Processing, Post-Transcriptional</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>ARN</term>
<term>ARN de transfert</term>
<term>Gènes récessifs</term>
<term>Maturation post-transcriptionnelle des ARN</term>
<term>Methyltransferases</term>
<term>Mutation</term>
<term>Ribonuclease P</term>
<term>Transfert d'électrons</term>
</keywords>
<keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Mitochondria</term>
<term>RNA</term>
</keywords>
<keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>ARN</term>
<term>Mitochondries</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Mitochondrial Diseases</term>
</keywords>
<keywords scheme="MESH" qualifier="physiologie" xml:lang="fr"><term>Biosynthèse des protéines</term>
</keywords>
<keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Protein Biosynthesis</term>
</keywords>
<keywords scheme="MESH" qualifier="étiologie" xml:lang="fr"><term>Maladies mitochondriales</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Amino Acid Sequence</term>
<term>Female</term>
<term>Humans</term>
<term>Infant, Newborn</term>
<term>Male</term>
<term>Pedigree</term>
<term>Sequence Homology, Amino Acid</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Femelle</term>
<term>Humains</term>
<term>Mâle</term>
<term>Nouveau-né</term>
<term>Pedigree</term>
<term>Similitude de séquences d'acides aminés</term>
<term>Séquence d'acides aminés</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Mitochondrial disorders are clinically and genetically diverse, with mutations in mitochondrial or nuclear genes able to cause defects in mitochondrial gene expression. Recently, mutations in several genes encoding factors involved in mt-tRNA processing have been identified to cause mitochondrial disease. Using whole-exome sequencing, we identified mutations in <italic>TRMT10C</italic>
 (encoding the mitochondrial RNase P protein 1 [MRPP1]) in two unrelated individuals who presented at birth with lactic acidosis, hypotonia, feeding difficulties, and deafness. Both individuals died at 5 months after respiratory failure. MRPP1, along with MRPP2 and MRPP3, form the mitochondrial ribonuclease P (mt-RNase P) complex that cleaves the 5′ ends of mt-tRNAs from polycistronic precursor transcripts. Additionally, a stable complex of MRPP1 and MRPP2 has m<sup>1</sup>
R9 methyltransferase activity, which methylates mt-tRNAs at position 9 and is vital for folding mt-tRNAs into their correct tertiary structures. Analyses of fibroblasts from affected individuals harboring <italic>TRMT10C</italic>
 missense variants revealed decreased protein levels of MRPP1 and an increase in mt-RNA precursors indicative of impaired mt-RNA processing and defective mitochondrial protein synthesis. The pathogenicity of the detected variants—compound heterozygous c.542G>T (p.Arg181Leu) and c.814A>G (p.Thr272Ala) changes in subject 1 and a homozygous c.542G>T (p.Arg181Leu) variant in subject 2—was validated by the functional rescue of mt-RNA processing and mitochondrial protein synthesis defects after lentiviral transduction of wild-type <italic>TRMT10C</italic>
. Our study suggests that these variants affect MRPP1 protein stability and mt-tRNA processing without affecting m<sup>1</sup>
R9 methyltransferase activity, identifying mutations in <italic>TRMT10C</italic>
 as a cause of mitochondrial disease and highlighting the importance of RNA processing for correct mitochondrial function.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Australie</li>
<li>France</li>
<li>Royaume-Uni</li>
</country>
<region><li>Angleterre</li>
<li>Angleterre de l'Est</li>
<li>Grand Manchester</li>
<li>Île-de-France</li>
</region>
<settlement><li>Cambridge</li>
<li>Manchester</li>
<li>Paris</li>
</settlement>
<orgName><li>Université de Cambridge</li>
<li>Université de Manchester</li>
</orgName>
</list>
<tree><country name="France"><region name="Île-de-France"><name sortKey="Metodiev, Metodi D" sort="Metodiev, Metodi D" uniqKey="Metodiev M" first="Metodi D." last="Metodiev">Metodi D. Metodiev</name>
</region>
<name sortKey="Assouline, Zarah" sort="Assouline, Zarah" uniqKey="Assouline Z" first="Zarah" last="Assouline">Zarah Assouline</name>
<name sortKey="Bahi Buisson, Nadia" sort="Bahi Buisson, Nadia" uniqKey="Bahi Buisson N" first="Nadia" last="Bahi-Buisson">Nadia Bahi-Buisson</name>
<name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name>
<name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name>
<name sortKey="Rio, Marlene" sort="Rio, Marlene" uniqKey="Rio M" first="Marlène" last="Rio">Marlène Rio</name>
<name sortKey="Rotig, Agnes" sort="Rotig, Agnes" uniqKey="Rotig A" first="Agnès" last="Rötig">Agnès Rötig</name>
</country>
<country name="Royaume-Uni"><noRegion><name sortKey="Thompson, Kyle" sort="Thompson, Kyle" uniqKey="Thompson K" first="Kyle" last="Thompson">Kyle Thompson</name>
</noRegion>
<name sortKey="Alston, Charlotte L" sort="Alston, Charlotte L" uniqKey="Alston C" first="Charlotte L." last="Alston">Charlotte L. Alston</name>
<name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F." last="Chinnery">Patrick F. Chinnery</name>
<name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F." last="Chinnery">Patrick F. Chinnery</name>
<name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F." last="Chinnery">Patrick F. Chinnery</name>
<name sortKey="Griffin, Helen" sort="Griffin, Helen" uniqKey="Griffin H" first="Helen" last="Griffin">Helen Griffin</name>
<name sortKey="He, Langping" sort="He, Langping" uniqKey="He L" first="Langping" last="He">Langping He</name>
<name sortKey="Mcfarland, Robert" sort="Mcfarland, Robert" uniqKey="Mcfarland R" first="Robert" last="Mcfarland">Robert Mcfarland</name>
<name sortKey="Morris, Andrew A M" sort="Morris, Andrew A M" uniqKey="Morris A" first="Andrew A. M." last="Morris">Andrew A. M. Morris</name>
<name sortKey="Morris, Andrew A M" sort="Morris, Andrew A M" uniqKey="Morris A" first="Andrew A. M." last="Morris">Andrew A. M. Morris</name>
<name sortKey="Pyle, Angela" sort="Pyle, Angela" uniqKey="Pyle A" first="Angela" last="Pyle">Angela Pyle</name>
<name sortKey="Taylor, Robert W" sort="Taylor, Robert W" uniqKey="Taylor R" first="Robert W." last="Taylor">Robert W. Taylor</name>
</country>
<country name="Australie"><noRegion><name sortKey="Siira, Stefan" sort="Siira, Stefan" uniqKey="Siira S" first="Stefan" last="Siira">Stefan Siira</name>
</noRegion>
<name sortKey="Filipovska, Aleksandra" sort="Filipovska, Aleksandra" uniqKey="Filipovska A" first="Aleksandra" last="Filipovska">Aleksandra Filipovska</name>
</country>
</tree>
</affiliations>
</record>

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Serveur d'exploration sur les relations entre la France et l'Australie

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

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