A dog model for centronuclear myopathy carrying the most common DNM2 mutation

A dog model for centronuclear myopathy carrying the most common DNM2 mutation

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...

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Bibliographic Details
Main Authors: Johann Böhm, Inès Barthélémy, Charlène Landwerlin, Nicolas Blanchard-Gutton, Frédéric Relaix, Stéphane Blot, Jocelyn Laporte, Laurent Tiret
Format: Article
Language:English
Published: The Company of Biologists 2022-04-01
Series:Disease Models & Mechanisms
Subjects:
neuromuscular disorder
congenital myopathy
dynamin
large animal model
t-tubules
mtm1
Online Access:http://dmm.biologists.org/content/15/4/dmm049219

Internet

http://dmm.biologists.org/content/15/4/dmm049219

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