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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
12
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pubmed:dateCreated |
2006-12-12
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pubmed:abstractText |
Myosin storage myopathy/hyaline body myopathy is a rare congenital myopathy, with less than 30 cases reported in the literature. It is characterised by the presence of subsarcolemmal hyaline bodies in type 1 muscle fibres and predominantly proximal muscle weakness. Recently, a single mutation (Arg1845Trp) in the slow/beta-cardiac myosin heavy chain gene (MYH7) was identified in four unrelated probands from Sweden and Belgium. The clinical severity and age of onset was variable, despite the same disease-causing mutation and similar histological findings. Here, we report the clinical and morphological findings of two brothers of English/Scottish background with the Arg1845Trp mutation in MYH7. This case report adds to the clinical description of this rare disorder and confirms that Arg1845Trp is a common mutation associated with this phenotype, at least in the White European population.
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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 |
0960-8966
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
16
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
882-6
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pubmed:dateRevised |
2008-1-4
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pubmed:meshHeading |
pubmed-meshheading:17118657-Amino Acid Substitution,
pubmed-meshheading:17118657-Australia,
pubmed-meshheading:17118657-Cardiac Myosins,
pubmed-meshheading:17118657-DNA Mutational Analysis,
pubmed-meshheading:17118657-Disease Progression,
pubmed-meshheading:17118657-European Continental Ancestry Group,
pubmed-meshheading:17118657-Genetic Predisposition to Disease,
pubmed-meshheading:17118657-Genotype,
pubmed-meshheading:17118657-Great Britain,
pubmed-meshheading:17118657-Humans,
pubmed-meshheading:17118657-Hyalin,
pubmed-meshheading:17118657-Male,
pubmed-meshheading:17118657-Microscopy, Electron, Transmission,
pubmed-meshheading:17118657-Middle Aged,
pubmed-meshheading:17118657-Muscle, Skeletal,
pubmed-meshheading:17118657-Muscle Weakness,
pubmed-meshheading:17118657-Muscular Atrophy,
pubmed-meshheading:17118657-Muscular Diseases,
pubmed-meshheading:17118657-Mutation,
pubmed-meshheading:17118657-Myosin Heavy Chains,
pubmed-meshheading:17118657-Phenotype
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pubmed:year |
2006
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pubmed:articleTitle |
Myosin storage (hyaline body) myopathy: a case report.
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pubmed:affiliation |
Department of Pathology, University of Sydney, Australia. meena.shingde@email.cs.nsw.gov.au
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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