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

Marshall Journal of Medicine

Christopher Burrell¹  Dominika Lozowska¹  Zachary Wilson² 

[1] Marshall University Joan C Edwards School of Medicine;University of Colorado Hospital);

关键词: Centronuclear myopathy;    dynamin 2;    DNM2;    muscular dystrophy;    weakness;   

DOI  :  http://dx.doi.org/10.18590/mjm.2018.vol4.iss4.4

来源: DOAJ

【 摘 要 】

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 genetic testing in identifying CNM, as well as potential for improving outcomes by having a high index or suspicion and emphasizing better access to healthcare in underserved areas.

【 授权许可】

Unknown