Ontology highlight
ABSTRACT:
SUBMITTER: Tasfaout H
PROVIDER: S-EPMC6218136 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Tasfaout Hichem H Cowling Belinda S BS Laporte Jocelyn J
Journal of neuromuscular diseases 20180101 4
Centronuclear myopathies are a group of congenital myopathies characterized by severe muscle weakness, genetic heterogeneity, and defects in the structural organization of muscle fibers. Their names are derived from the central position of nuclei on biopsies, while they are at the fiber periphery under normal conditions. No specific therapy exists yet for these debilitating diseases. Mutations in the myotubularin phosphoinositides phosphatase, the GTPase dynamin 2, or amphiphysin 2 have been ide ...[more]