Details

Autor(en) / Beteiligte

• Vujovic, Dragan
• Cornblath, David R.
• Scherer, Steven S.

Titel

A recurrent MORC2 mutation causes Charcot‐Marie‐Tooth disease type 2Z

Ist Teil von

• Journal of the peripheral nervous system, 2021-06, Vol.26 (2), p.184-186

Ort / Verlag

Malden, USA: Wiley Periodicals, Inc

Erscheinungsjahr

2021

Quelle

Wiley Online Library - AutoHoldings Journals

Beschreibungen/Notizen

• 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.