| Autor: |
Christopher Burrell, Zachary Wilson, Dominika Lozowska |
| Jazyk: |
angličtina |
| Rok vydání: |
2018 |
| Předmět: |
|
| Zdroj: |
Marshall Journal of Medicine, Vol 4, Iss 4, Pp 1-15 (2018) |
| Druh dokumentu: |
article |
| ISSN: |
2379-9536 |
| DOI: |
10.18590/mjm.2018.vol4.iss4.4 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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