Article
A dog model for centronuclear myopathy carrying the most common DNM2 mutation.
Disease models & mechanisms - 1 Apr 2022
Böhm Johann, Barthélémy Inès, Landwerlin Charlène, Blanchard-Gutton Nicolas, Relaix Frédéric, Blot Stéphane, Laporte Jocelyn, Tiret Laurent
Abstract excerpt
Mutations in DNM2 cause autosomal dominant centronuclear myopathy (ADCNM), a rare disease characterized by skeletal muscle weakness and structural anomalies of the myofibres, including nuclear centralization and mitochondrial mispositioning. Following the clinical report of a Border Collie male with exercise intolerance and histopathological hallmarks of CNM on the muscle biopsy, we identified the c.1393C>T...
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