GAMSTORP I, WOHLFART G

A syndrome characterized by myokymia, myotonia, muscular wasting and increased perspiration.

Acta Psychiatr Neurol Scand 34:181-94 (1959)
DOI:10.1111/j.1600-0447.1959.tb07573.x

Zimon M, Baets J, Almeida-Souza L, De Vriendt E, Nikodinovic J, Parman Y, Battaloglu E, Matur Z, Guergueltcheva V, Tournev I, Auer-Grumbach M, De Rijk P, Petersen BS, Muller T, Fransen E, Van Damme P, Loscher WN, Barisic N, Mitrovic Z, Previtali SC, Topaloglu H, Bernert G, Beleza-Meireles A, Todorovic S, Savic-Pavicevic D, Ishpekova B, Lechner S, Peeters K, Ooms T, Hahn AF, Zuchner S, Timmerman V, Van Dijck P, Rasic VM, Janecke AR, De Jonghe P, Jordanova A

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.

Nat Genet 44:1080-3 (2012)
DOI:10.1038/ng.2406

Cortes-Montero E, Rodriguez-Munoz M, Sanchez-Blazquez P, Garzon J

The Axonal Motor Neuropathy-Related HINT1 Protein Is a Zinc- and Calmodulin-Regulated Cysteine SUMO Protease.

Antioxid Redox Signal 31:503-520 (2019)
DOI:10.1089/ars.2019.7724