A recurrent MORC2 mutation causes Charcot‐Marie‐Tooth disease type 2Z
| Autor: | David R. Cornblath, Dragan Vujovic, Steven S. Scherer |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Pediatrics
medicine.medical_specialty Weakness business.industry General Neuroscience Neurotoxicity Disease medicine.disease Vinblastine 03 medical and health sciences Tooth disease 0302 clinical medicine 030220 oncology & carcinogenesis Mutation (genetic algorithm) medicine Clinical electrophysiology Hodgkin lymphoma Neurology (clinical) medicine.symptom business 030217 neurology & neurosurgery medicine.drug |
| Zdroj: | Journal of the Peripheral Nervous System. 26:184-186 |
| ISSN: | 1529-8027 1085-9489 |
| DOI: | 10.1111/jns.12443 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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