Identification of a locus for an autosomal recessive hyaline body myopathy at chromosome 3p22.2-p21.32

WOS: 000187448200001PubMed ID: 14659406Hyaline 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. (C) 2003 Elsevier B.V. All rights reserved