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

Abstract excerpt

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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