A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy
Abstract
Nemaline myopathies are diseases characterized by the presence in muscle fibres of pathognomonic rod bodies. These are composed largely of alpha-actinin and actin. We have identified a missense mutation in the alpha-tropomyosin gene, TPM3, which segregates completely with the disease in a family whose autosomal dominant nemaline myopathy we had previously localized to chromosome 1p13-q25. The mutation substitutes an arginine residue for a highly...
Paper Details
Title
A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy
Published Date
Jan 1, 1995
Journal
Volume
9
Issue
1
Pages
75 - 79
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