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. 1998 Aug;19(4):402-3.
doi: 10.1038/1300.

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

L G Goldfarb  1 , K Y Park, L Cervenáková, S Gorokhova, H S Lee, O Vasconcelos, J W Nagle, C Semino-Mora, K Sivakumar, M C Dalakas
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Missense mutations in desmin associated with familial cardiac and skeletal myopathy

L G Goldfarb et al. Nat Genet. 1998 Aug.

Abstract

Desmin-related myopathy (OMIM 601419) is a familial disorder characterized by skeletal muscle weakness associated with cardiac conduction blocks, arrhythmias and restrictive heart failure, and by intracytoplasmic accumulation of desmin-reactive deposits in cardiac and skeletal muscle cells. The underlying molecular mechanisms are unknown. Involvement of the desmin gene (DES) has been excluded in three families diagnosed with desmin-related myopathy. We report two new families with desmin-related cardioskeletal myopathy associated with mutations in the highly conserved carboxy-terminal end of the desmin rod domain. A heterozygous A337P mutation was identified in a family with an adult-onset skeletal myopathy and mild cardiac involvement. Compound heterozygosity for two other mutations, A360P and N393I, was detected in a second family characterized by childhood-onset aggressive course of cardiac and skeletal myopathy.

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