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Neuromuscul Disord. 2004 Jan;14(1):4-9.

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

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  • 1Department of Molecular Biology and Genetics, Bogaziçi University, Bebek 34342, Istanbul, Turkey.


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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