Autosomal recessive neuromyotonia and axonal neuropathy

Definition:

Autosomal recessive neuromyotonia and axonal neuropathy (NMAN) is a syndrome characterized by myokymia, myotonia, muscular wasting and increased perspiration. It has been reported that loss-of-function mutations in HINT1 cause this disease. HINT1 ubiquitously expressed in mammalian tissues, and it is a tumor suppressor that participates in several apoptotic pathways.

References:

[1]. Elsa Cortés-Montero, et al. The Axonal Motor Neuropathy-Related HINT1 Protein Is a Zinc- and Calmodulin-Regulated Cysteine SUMO Protease. Antioxid Redox Signal. 2019 Sep 1;31(7):503-520. [Content Brief]

[2]. I GAMSTORP, et al. A syndrome characterized by myokymia, myotonia, muscular wasting and increased perspiration. Acta Psychiatr Neurol Scand. 1959;34(2):181-94. [Content Brief]

[3]. Magdalena Zimoń, et al. Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nat Genet. 2012 Oct;44(10):1080-3. [Content Brief]

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