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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
9-10
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|
pubmed:dateCreated |
2006-9-18
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pubmed:abstractText |
We report on a 2-year-old male child with both nemaline myopathy and hypertrophic cardiomyopathy (HCM). Sequencing of the ACTA1 gene showed a "de novo" missense heterozygous mutation a>g in exon 7 (Lys336Glu). Two-dimensional electrophoresis showed 28% mutant actin present in his muscle biopsy. Actin was isolated from the muscle biopsy and examined by in vitro motility assay. The sliding speed was 13+/-3% less than normal and the affinity of actin for the Z-line protein alpha-actinin was reduced 10 fold. This is the first report on a hypertrophic cardiomyopathy associated with nemaline myopathy and an ACTA1 mutation.
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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 |
Oct
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pubmed:issn |
0960-8966
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pubmed:author |
pubmed-author:BertiniEnricoE,
pubmed-author:BoldriniRenataR,
pubmed-author:D'AmicoAdeleA,
pubmed-author:FengJuan-JuanJJ,
pubmed-author:GrazianoClaudioC,
pubmed-author:JacquesAdamA,
pubmed-author:LaingNigelN,
pubmed-author:LimongelliGiuseppeG,
pubmed-author:MarstonSteven BSB,
pubmed-author:NowakKristen JKJ,
pubmed-author:PacileoGiuseppeG,
pubmed-author:PetriniStefaniaS,
pubmed-author:PorfirioBerardinoB,
pubmed-author:SantorelliFilippo MFM,
pubmed-author:SewryCaroline ACA
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|
pubmed:issnType |
Print
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pubmed:volume |
16
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
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pubmed:pagination |
548-52
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:16945537-Actinin,
pubmed-meshheading:16945537-Actins,
pubmed-meshheading:16945537-Amino Acid Substitution,
pubmed-meshheading:16945537-Cardiomyopathy, Hypertrophic, Familial,
pubmed-meshheading:16945537-Child, Preschool,
pubmed-meshheading:16945537-DNA Mutational Analysis,
pubmed-meshheading:16945537-Fatal Outcome,
pubmed-meshheading:16945537-Genetic Predisposition to Disease,
pubmed-meshheading:16945537-Genetic Testing,
pubmed-meshheading:16945537-Glutamic Acid,
pubmed-meshheading:16945537-Humans,
pubmed-meshheading:16945537-Lysine,
pubmed-meshheading:16945537-Male,
pubmed-meshheading:16945537-Muscle, Skeletal,
pubmed-meshheading:16945537-Muscle Contraction,
pubmed-meshheading:16945537-Muscle Fibers, Skeletal,
pubmed-meshheading:16945537-Mutation, Missense,
pubmed-meshheading:16945537-Myocardium,
pubmed-meshheading:16945537-Myopathies, Nemaline
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pubmed:year |
2006
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|
pubmed:articleTitle |
Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation.
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pubmed:affiliation |
Unit of Molecular Medicine and Pathology, Dept. of Laboratory Medicine, Bambino Gesu' Children's Research Hospital, Rome, Italy.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|
