A recurrent MORC2 mutation causes Charcot-Marie-Tooth disease type 2Z.
J Peripher Nerv Syst
; 26(2): 184-186, 2021 06.
Article
in En
| MEDLINE
| ID: mdl-33844363
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Transcription Factors
/
Charcot-Marie-Tooth Disease
Type of study:
Etiology_studies
Limits:
Humans
Language:
En
Journal:
J Peripher Nerv Syst
Journal subject:
NEUROLOGIA
Year:
2021
Type:
Article
Affiliation country:
United States