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

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 far. Some of these cases had mil...

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Detalles Bibliográficos
Autores principales: Jiang, Nan, Vazquez Do Campo, Rocio, Kazamel, Mohamed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9943687/
https://www.ncbi.nlm.nih.gov/pubmed/36846110
http://dx.doi.org/10.3389/fneur.2023.1007051

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9943687/
https://www.ncbi.nlm.nih.gov/pubmed/36846110
http://dx.doi.org/10.3389/fneur.2023.1007051

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