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

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...

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Bibliographic Details
Main Authors: Nan Jiang, Rocio Vazquez Do Campo, Mohamed Kazamel
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-02-01
Series:Frontiers in Neurology
Subjects:
charcot-marie-tooth (CMT)
HINT1 mutation
neuromyotonia
rimmed vacuoles
motor-predominant neuropathy
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2023.1007051/full

Internet

https://www.frontiersin.org/articles/10.3389/fneur.2023.1007051/full

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