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- Title
A recurrent MORC2 mutation causes Charcot‐Marie‐Tooth disease type 2Z.
- Authors
Vujovic, Dragan; Cornblath, David R.; Scherer, Steven S.
- Abstract
We found a p.Ala406Val (c.1217C > T) mutation in MORC2 in three individuals, from two families. All three individuals were evaluated and clinical electrophysiology was completed. The neuropathy began in childhood to early adulthood, with distal weakness progressing to proximal weakness. Vinblastine (for Hodgkin lymphoma) acutely worsened the weakness in one patient. This finding confirms that that the p.Ala406Val mutation in MORC2 causes severe neuropathy. In addition, we report the first case of vinblastine neurotoxicity in Charcot‐Marie‐Tooth disease type 2Z.
- Subjects
HODGKIN'S disease; NEUROTOXICOLOGY; GENETIC mutation; SYNDROMES; NEUROLOGICAL disorders; ELECTROPHYSIOLOGY; MUSCLE weakness; SEVERITY of illness index; CHARCOT-Marie-Tooth disease; VINBLASTINE
- Publication
Journal of the Peripheral Nervous System, 2021, Vol 26, Issue 2, p184
- ISSN
1085-9489
- Publication type
Article
- DOI
10.1111/jns.12443