Clinical and Pathological Features of Korean Patients withDNM2-Related Centronuclear Myopathy

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Clinical and Pathological Features of Korean Patients with DNM2-Related Centronuclear Myopathy

BACKGROUND AND PURPOSE Centronuclear myopathy (CNM) is characterized by the presence of central nuclei within a large number of muscle fibers. Mutations of the dynamin 2 gene (DNM2) are common causes of autosomal dominant or sporadic CNM. The aim of this study was to characterize the clinical and pathological features of CNM relative to the presence of DNM2 mutations. METHODS Six patients wit...

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ژورنال

عنوان ژورنال: Journal of Clinical Neurology

سال: 2014

ISSN: 1738-6586,2005-5013

DOI: 10.3988/jcn.2014.10.1.24