Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene
M Olivé, J Armstrong, F Miralles, A Pou… - Neuromuscular …, 2007 - Elsevier
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
mutations and each of three desminopathy patients with known desmin mutations …
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
mutations and each of three desminopathy patients with known desmin mutations …
