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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2008-2-4
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pubmed:abstractText |
We characterized the frequency of limb-girdle muscular dystrophy (LGMD) subtypes in a cohort of 76 Australian muscular dystrophy patients using protein and DNA sequence analysis. Calpainopathies (8%) and dysferlinopathies (5%) are the most common causes of LGMD in Australia. In contrast to European populations, cases of LGMD2I (due to mutations in FKRP) are rare in Australasia (3%). We have identified a cohort of patients in whom all common disease candidates have been excluded, providing a valuable resource for identification of new disease genes. Cytoplasmic localization of dysferlin correlates with fiber regeneration in a subset of muscular dystrophy patients. In addition, we have identified a group of patients with unidentified forms of LGMD and with markedly abnormal dysferlin localization that does not correlate with fiber regeneration. This pattern is mimicked in primary caveolinopathy, suggesting a subset of these patients may also possess mutations within proteins required for membrane targeting of dysferlin.
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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 |
Jan
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pubmed:issn |
0960-8966
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pubmed:author |
pubmed-author:CairnsAnita GAG,
pubmed-author:ChiotisMariaM,
pubmed-author:ComptonAlison GAG,
pubmed-author:CooperSandra TST,
pubmed-author:CorbettAlistairA,
pubmed-author:EvessonFrances JFJ,
pubmed-author:LiuYe VYV,
pubmed-author:LoHarriet PHP,
pubmed-author:MacArthurDaniel GDG,
pubmed-author:NorthKathryn NKN,
pubmed-author:ReardonKatrinaK,
pubmed-author:SetoJane TJT,
pubmed-author:TayValerieV
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pubmed:issnType |
Print
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pubmed:volume |
18
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
34-44
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:17897828-Caveolin 1,
pubmed-meshheading:17897828-Cohort Studies,
pubmed-meshheading:17897828-Cytoplasm,
pubmed-meshheading:17897828-DNA Mutational Analysis,
pubmed-meshheading:17897828-Gene Frequency,
pubmed-meshheading:17897828-Genetic Predisposition to Disease,
pubmed-meshheading:17897828-Genetic Testing,
pubmed-meshheading:17897828-Humans,
pubmed-meshheading:17897828-Membrane Proteins,
pubmed-meshheading:17897828-Muscle, Skeletal,
pubmed-meshheading:17897828-Muscle Fibers, Skeletal,
pubmed-meshheading:17897828-Muscle Proteins,
pubmed-meshheading:17897828-Muscular Dystrophies, Limb-Girdle,
pubmed-meshheading:17897828-Mutation,
pubmed-meshheading:17897828-Protein Transport,
pubmed-meshheading:17897828-Regeneration,
pubmed-meshheading:17897828-Retrospective Studies,
pubmed-meshheading:17897828-Sarcolemma
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pubmed:year |
2008
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pubmed:articleTitle |
Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis.
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pubmed:affiliation |
Institute for Neuromuscular Research, The Children's Hospital at Westmead, Sydney, Australia.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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