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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 |
2003-12-8
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pubmed:abstractText |
Hyaline body myopathy is a rare congenital disease with distinctive histopathological features. We performed homozygosity mapping in a family with two affected sibs and identified a gene locus with a maximum homozygosity region of 5.35 centi Morgans or 5.59 Megabases at chromosome 3p22.2-p21.32. The best candidate responsible for the disease is a novel gene that exhibits homology to the myosin heavy chain.
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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 |
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pubmed:issnType |
Print
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pubmed:volume |
14
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
4-9
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:14659406-Adult,
pubmed-meshheading:14659406-Chromosome Disorders,
pubmed-meshheading:14659406-Chromosome Mapping,
pubmed-meshheading:14659406-Chromosomes, Human, Pair 3,
pubmed-meshheading:14659406-DNA Mutational Analysis,
pubmed-meshheading:14659406-Female,
pubmed-meshheading:14659406-Genes, Recessive,
pubmed-meshheading:14659406-Genetic Markers,
pubmed-meshheading:14659406-Genotype,
pubmed-meshheading:14659406-Haplotypes,
pubmed-meshheading:14659406-Humans,
pubmed-meshheading:14659406-Hyalin,
pubmed-meshheading:14659406-Inclusion Bodies,
pubmed-meshheading:14659406-Male,
pubmed-meshheading:14659406-Muscle, Skeletal,
pubmed-meshheading:14659406-Muscular Diseases,
pubmed-meshheading:14659406-Mutation,
pubmed-meshheading:14659406-Myosin Heavy Chains
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pubmed:year |
2004
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pubmed:articleTitle |
Identification of a locus for an autosomal recessive hyaline body myopathy at chromosome 3p22.2-p21.32.
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pubmed:affiliation |
Department of Molecular Biology and Genetics, Bogaziçi University, Bebek 34342, Istanbul, Turkey.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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