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DECHENE , Elizabeth T

Last name: DECHENE

First name: Elizabeth T

June 2012 (v1)

Journal article

Metadata-only

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

Böhm, Johann Biancalana, Valérie Dechene, Elizabeth T

Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy, and abnormally centralized nuclei. Autosomal dominant CNM is due to mutations in the large GTPase dynamin 2 (DNM2), a mechanochemical enzyme regulating cytoskeleton and membrane...

Uploaded on: February 28, 2023