Case report: A novel homozygous histidine triad nucleotide-binding protein 1 mutation featuring distal hereditary motor-predominant neuropathy with rimmed vacuoles

IntroductionRecessive mutations in the gene encoding the histidine triad nucleotide-binding protein 1 (HINT1) are associated with axonal motor-predominant Charcot–Marie–Tooth (CMT) disease with neuromyotonia. A total of 24 HINT1 gene mutations have been reported so far. Some of these cases had mild...

Deskribapen osoa

Xehetasun bibliografikoak

Egile Nagusiak:	Nan Jiang, Rocio Vazquez Do Campo, Mohamed Kazamel
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	Frontiers Media S.A. 2023-02-01
Saila:	Frontiers in Neurology
Gaiak:	charcot-marie-tooth (CMT) HINT1 mutation neuromyotonia rimmed vacuoles motor-predominant neuropathy
Sarrera elektronikoa:	https://www.frontiersin.org/articles/10.3389/fneur.2023.1007051/full
Etiketak:	Etiketa erantsi Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!