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

Neuromiotonia

A síndrome de Isaacs ou Neuromiotonia é uma síndrome de hiperexcitabilidade dos nervos periféricos (HPN) que se apresenta como atividade motora contínua.

Autosomal recessive axonal neuropathy with neuromyotonia

Autosomal recessive axonal neuropathy with neuromyotonia, also known as Gamstorp-Wohlfart syndrome, is a rare hereditary disorder which is characterized by progressive…

小眼球症関連転写因子

小眼球症関連転写因子（しょうがんきゅうしょうかんれんてんしゃいんし、、MITF）は、ヒトではMITF遺伝子によってコードされるタンパク質である。bHLHe32（class E basic helix-loop-helix protein 32）としても知られる。.

Microphthalmia-associated transcription factor

Microphthalmia-associated transcription factor also known as class E basic helix-loop-helix protein 32 or bHLHe32 is a protein that in humans is encoded by the MITF gene.