Frequency and Phenotype of Myotubular Myopathy Amongst Danish Patients with Congenital Myopathy Older than 5 Years

Werlauff U, Petri, H, Witting N, Vissing J.
Journal of Neuromuscular Diseases. 2015. 2(2):167-174.
Eighty-four patients with a centronuclear myopathy (CNM) older than five years were included in the study and assessed by muscle tests, functional tests (including MFM), muscle biopsy, plasma creatine kinase levels and genetic testing.
Findings show that CNM caused by DNM2 mutations is the most common form of CNM in Danish patients older than 5 years.

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Keywords: Neuromuscular diseases, centronuclear myopathy, epidemiology, genetics, rehabilitation

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