Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene
Abstract
Desminopathy represents a subgroup of myofibrillar myopathies caused by mutations in the desmin gene. Three novel disease-associated mutations in the desmin gene were identified in unrelated Spanish families affected by cardioskeletal myopathy. A selective pattern of muscle involvement, which differed from that observed in myofibrillar myopathy resulting from mutations in the myotilin gene, was observed in each of the three families with novel...
Paper Details
Title
Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene
Published Date
Jun 1, 2007
Journal
Volume
17
Issue
6
Pages
443 - 450
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