title: Identification of a locus for an autosomal recessive hyaline body myopathy at chromosome 3p22.2-p21.32.
abstract: 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.
authors.affiliation: Department of Molecular Biology and Genetics, Bogaziçi University, Bebek 34342, Istanbul, Turkey.
authors.forename: Suna
authors.initials: S
authors.lastname: Onengüt
authors.forename: Sibel Aylin
authors.initials: SA
authors.lastname: Uğur
authors.forename: Hatice
authors.initials: H
authors.lastname: Karasoy
authors.forename: Nur
authors.initials: N
authors.lastname: Yüceyar
authors.forename: Aslihan
authors.initials: A
authors.lastname: Tolun
mesh_terms: D000328:Adult; D025063:Chromosome Disorders / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D006818:Hyalin / Q000378:metabolism; D002479:Inclusion Bodies / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D008297:Male; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D018995:Myosin Heavy Chains / Q000235:genetics
chemical_list: D005819:Genetic Markers; D018995:Myosin Heavy Chains