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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
7
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pubmed:dateCreated |
2009-8-18
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pubmed:abstractText |
Mutations in the four-and-a-half LIM domain 1 gene (FHL1) cause X-linked late-onset scapuloaxioperoneal myopathy characterized by postural muscle atrophy with rigid spine syndrome with pseudoathleticism/hypertrophy (XMPMA), reducing body myopathy (RBM), and scapuloperoneal myopathy. Divergences in these diseases are hitherto unclear; therefore, we searched for additional families to elucidate differences and similarities of these allelic FHL1opathies.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
1526-632X
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:day |
18
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pubmed:volume |
73
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
543-51
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:19687455-Adolescent,
pubmed-meshheading:19687455-Adult,
pubmed-meshheading:19687455-Aged, 80 and over,
pubmed-meshheading:19687455-DNA Mutational Analysis,
pubmed-meshheading:19687455-Female,
pubmed-meshheading:19687455-Genetic Diseases, X-Linked,
pubmed-meshheading:19687455-Genetic Markers,
pubmed-meshheading:19687455-Genetic Predisposition to Disease,
pubmed-meshheading:19687455-Genetic Testing,
pubmed-meshheading:19687455-Genotype,
pubmed-meshheading:19687455-Heart Defects, Congenital,
pubmed-meshheading:19687455-Humans,
pubmed-meshheading:19687455-Intracellular Signaling Peptides and Proteins,
pubmed-meshheading:19687455-LIM Domain Proteins,
pubmed-meshheading:19687455-Male,
pubmed-meshheading:19687455-Middle Aged,
pubmed-meshheading:19687455-Muscle, Skeletal,
pubmed-meshheading:19687455-Muscle Proteins,
pubmed-meshheading:19687455-Muscular Diseases,
pubmed-meshheading:19687455-Mutation,
pubmed-meshheading:19687455-Mutation, Missense,
pubmed-meshheading:19687455-Phenotype,
pubmed-meshheading:19687455-Protein Structure, Tertiary,
pubmed-meshheading:19687455-Young Adult
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pubmed:year |
2009
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pubmed:articleTitle |
Consequences of mutations within the C terminus of the FHL1 gene.
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pubmed:affiliation |
Friedrich-Baur Institute, Department of Neurology, Ludwig-Maximilians University Munich, Ziemssenstr. 1a, 80336 Munich, Germany. bschoser@med.uni-muenchen.de
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pubmed:publicationType |
Journal Article,
Case Reports
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