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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
1999-1-8
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pubmed:abstractText |
A muscle biopsy from an X-linked muscular dystrophy pedigree showed normal dystrophin and dystrophin-associated proteins. Linkage to multiple markers within the dystrophin gene (LOD=2.7, theta=0) indicated a primary dystrophinopathy. Sequencing of the entire dystrophin RNA revealed a single missense mutation (D3335H) in the unique carboxyl-terminal domain. This is the first report showing that a relatively severe dystrophinopathy can occur despite the correct localization of dystrophin and dystrophin-associated proteins.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
0364-5134
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
44
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
971-6
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:9851445-Amino Acid Sequence,
pubmed-meshheading:9851445-Base Sequence,
pubmed-meshheading:9851445-Child,
pubmed-meshheading:9851445-Child, Preschool,
pubmed-meshheading:9851445-Cytoskeletal Proteins,
pubmed-meshheading:9851445-DNA, Complementary,
pubmed-meshheading:9851445-Dystroglycans,
pubmed-meshheading:9851445-Dystrophin,
pubmed-meshheading:9851445-Genetic Linkage,
pubmed-meshheading:9851445-Humans,
pubmed-meshheading:9851445-Laminin,
pubmed-meshheading:9851445-Male,
pubmed-meshheading:9851445-Membrane Glycoproteins,
pubmed-meshheading:9851445-Molecular Sequence Data,
pubmed-meshheading:9851445-Muscles,
pubmed-meshheading:9851445-Mutation, Missense,
pubmed-meshheading:9851445-Pedigree,
pubmed-meshheading:9851445-Phenotype,
pubmed-meshheading:9851445-Sarcoglycans,
pubmed-meshheading:9851445-X Chromosome
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pubmed:year |
1998
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pubmed:articleTitle |
A dystrophin missense mutation showing persistence of dystrophin and dystrophin-associated proteins yet a severe phenotype.
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pubmed:affiliation |
Department of Molecular Genetics and Biochemistry, University of Pittsburgh School of Medicine, PA 15261, USA.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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