Molecular genetic studies of muscle lactate dehydrogenase deficiency in white patients
Identifieur interne : 004236 ( Main/Exploration ); précédent : 004235; suivant : 004237Molecular genetic studies of muscle lactate dehydrogenase deficiency in white patients
Auteurs : Seiichi Tsujino [États-Unis] ; Sara Shanske [États-Unis] ; A. Keith W. Brownell [Canada] ; Ronald G. Haller [États-Unis] ; Ronald G. Dimauro [États-Unis]Source :
- Annals of Neurology [ 0364-5134 ] ; 1994-10.
Abstract
We identified two new mutations in 2 white patients with muscle lactate dehydrogenase deficiency. Both patients had exercise intolerance, cramps, and recurrent myoglobinuria. One patient was homozygous for a 2‐bp deletion in exon 5, resulting in a frameshift with premature termination of translation. The second patient was homozygous for a G → A substitution at the 3′ end of exon 2, leading to exon skipping and splicing of exon 1 to exon 3; the aberrantly spliced messenger RNA contains a frameshift, resulting in premature termination of translation. The present report provides evidence of molecular genetic heterogeneity in white patients with muscle lactate dehydrogenase deficiency.
Url:
DOI: 10.1002/ana.410360418
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 001A46
- to stream Istex, to step Curation: 001A46
- to stream Istex, to step Checkpoint: 001B63
- to stream Main, to step Merge: 004993
- to stream Main, to step Curation: 004236
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Molecular genetic studies of muscle lactate dehydrogenase deficiency in white patients</title><author><name sortKey="Tsujino, Seiichi" sort="Tsujino, Seiichi" uniqKey="Tsujino S" first="Seiichi" last="Tsujino">Seiichi Tsujino</name></author><author><name sortKey="Shanske, Sara" sort="Shanske, Sara" uniqKey="Shanske S" first="Sara" last="Shanske">Sara Shanske</name></author><author><name sortKey="Brownell, A Keith W" sort="Brownell, A Keith W" uniqKey="Brownell A" first="A. Keith W." last="Brownell">A. Keith W. Brownell</name></author><author><name sortKey="Haller, Ronald G" sort="Haller, Ronald G" uniqKey="Haller R" first="Ronald G." last="Haller">Ronald G. Haller</name></author><author><name sortKey="Dimauro, Ronald G" sort="Dimauro, Ronald G" uniqKey="Dimauro R" first="Ronald G." last="Dimauro">Ronald G. Dimauro</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:5B0EE11C04652D0DFAE3EEAEAD4698E8A19AB46B</idno><date when="1994" year="1994">1994</date><idno type="doi">10.1002/ana.410360418</idno><idno type="url">https://api-v5.istex.fr/document/5B0EE11C04652D0DFAE3EEAEAD4698E8A19AB46B/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001A46</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">001A46</idno><idno type="wicri:Area/Istex/Curation">001A46</idno><idno type="wicri:Area/Istex/Checkpoint">001B63</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">001B63</idno><idno type="wicri:doubleKey">0364-5134:1994:Tsujino S:molecular:genetic:studies</idno><idno type="wicri:Area/Main/Merge">004993</idno><idno type="wicri:Area/Main/Curation">004236</idno><idno type="wicri:Area/Main/Exploration">004236</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Molecular genetic studies of muscle lactate dehydrogenase deficiency in white patients</title><author><name sortKey="Tsujino, Seiichi" sort="Tsujino, Seiichi" uniqKey="Tsujino S" first="Seiichi" last="Tsujino">Seiichi Tsujino</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia‐Presbyterian Medical Center, New York</wicri:cityArea></affiliation></author><author><name sortKey="Shanske, Sara" sort="Shanske, Sara" uniqKey="Shanske S" first="Sara" last="Shanske">Sara Shanske</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia‐Presbyterian Medical Center, New York</wicri:cityArea></affiliation></author><author><name sortKey="Brownell, A Keith W" sort="Brownell, A Keith W" uniqKey="Brownell A" first="A. Keith W." last="Brownell">A. Keith W. Brownell</name><affiliation wicri:level="4"><country xml:lang="fr">Canada</country><wicri:regionArea>Clinical Neuroscience, University of Calgary, Calgary, Alberta</wicri:regionArea><orgName type="university">Université de Calgary</orgName><placeName><settlement type="city">Calgary</settlement><region type="state">Alberta</region></placeName></affiliation></author><author><name sortKey="Haller, Ronald G" sort="Haller, Ronald G" uniqKey="Haller R" first="Ronald G." last="Haller">Ronald G. Haller</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Neurology, Veterans Administration Medical Center, Dallas</wicri:cityArea></affiliation></author><author><name sortKey="Dimauro, Ronald G" sort="Dimauro, Ronald G" uniqKey="Dimauro R" first="Ronald G." last="Dimauro">Ronald G. Dimauro</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia‐Presbyterian Medical Center, New York</wicri:cityArea></affiliation><affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Annals of Neurology</title><title level="j" type="sub">Official Journal of the American Neurological Association and the Child Neurology Society</title><title level="j" type="abbrev">Ann Neurol.</title><idno type="ISSN">0364-5134</idno><idno type="eISSN">1531-8249</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="1994-10">1994-10</date><biblScope unit="volume">36</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="661">661</biblScope><biblScope unit="page" to="665">665</biblScope></imprint><idno type="ISSN">0364-5134</idno></series><idno type="istex">5B0EE11C04652D0DFAE3EEAEAD4698E8A19AB46B</idno><idno type="DOI">10.1002/ana.410360418</idno><idno type="ArticleID">ANA410360418</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0364-5134</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We identified two new mutations in 2 white patients with muscle lactate dehydrogenase deficiency. Both patients had exercise intolerance, cramps, and recurrent myoglobinuria. One patient was homozygous for a 2‐bp deletion in exon 5, resulting in a frameshift with premature termination of translation. The second patient was homozygous for a G → A substitution at the 3′ end of exon 2, leading to exon skipping and splicing of exon 1 to exon 3; the aberrantly spliced messenger RNA contains a frameshift, resulting in premature termination of translation. The present report provides evidence of molecular genetic heterogeneity in white patients with muscle lactate dehydrogenase deficiency.</div></front></TEI><affiliations><list><country><li>Canada</li><li>États-Unis</li></country><region><li>Alberta</li><li>Texas</li><li>État de New York</li></region><settlement><li>Calgary</li></settlement><orgName><li>Université de Calgary</li></orgName></list><tree><country name="États-Unis"><region name="État de New York"><name sortKey="Tsujino, Seiichi" sort="Tsujino, Seiichi" uniqKey="Tsujino S" first="Seiichi" last="Tsujino">Seiichi Tsujino</name></region><name sortKey="Dimauro, Ronald G" sort="Dimauro, Ronald G" uniqKey="Dimauro R" first="Ronald G." last="Dimauro">Ronald G. Dimauro</name><name sortKey="Haller, Ronald G" sort="Haller, Ronald G" uniqKey="Haller R" first="Ronald G." last="Haller">Ronald G. Haller</name><name sortKey="Shanske, Sara" sort="Shanske, Sara" uniqKey="Shanske S" first="Sara" last="Shanske">Sara Shanske</name></country><country name="Canada"><region name="Alberta"><name sortKey="Brownell, A Keith W" sort="Brownell, A Keith W" uniqKey="Brownell A" first="A. Keith W." last="Brownell">A. Keith W. Brownell</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Canada/explor/ParkinsonCanadaV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 004236 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 004236 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Canada
|area= ParkinsonCanadaV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:5B0EE11C04652D0DFAE3EEAEAD4698E8A19AB46B
|texte= Molecular genetic studies of muscle lactate dehydrogenase deficiency in white patients
}}
| This area was generated with Dilib version V0.6.29. |  |