Diagnosis of a Centronuclear Myopathy Case in Appalachia 20 Years from Symptom Onset

Diagnosis of a Centronuclear Myopathy Case in Appalachia 20 Years from Symptom Onset

Dynamin 2 (DMN2) mutations cause centronuclear myopathy (CNM) and Charcot Marie Tooth (CMT). Herein we discuss the details of a patient's case of adult onset CNM. We also highlight the unique features of this case with regards to the importance of electromyography (EMG), muscle biopsy and genet...

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Bibliographic Details
Main Authors: Christopher Burrell, Zachary Wilson, Dominika Lozowska
Format: Article
Language:English
Published: Marshall University 2018-10-01
Series:Marshall Journal of Medicine
Subjects:
Centronuclear myopathy
dynamin 2
DNM2
muscular dystrophy
weakness
Online Access:https://mds.marshall.edu/cgi/viewcontent.cgi?article=1199&context=mjm

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