Case report: A novel homozygous histidine triad nucleotide-binding protein 1 mutation featuring distal hereditary motor-predominant neuropathy with rimmed vacuoles
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DOI: 10.3389/fneur.2023.1007051
Abstract: Introduction Recessive 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… read more here.
Keywords: motor predominant; rimmed vacuoles; muscle; motor ... See more keywords