TY  - JOUR 
AU  - Jiang, N.
AU  - Vázquez do Campo, Rocio
AU  - Kazamel, M.
PY  - 2023
SN  - 1664-2295
UR  - http://hdl.handle.net/20.500.11940/21189
AB  - 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...
LA  - eng
TI  - Case report: A novel homozygous histidine triad nucleotide-binding protein 1 mutation featuring distal hereditary motor-predominant neuropathy with rimmed vacuoles
DO  - 10.3389/fneur.2023.1007051
T2  - Frontiers in Neurology
KW  - AS A Coruña
KW  - CHUAC
VL  - 14
ER  -