Novel mutations in HINT1 gene cause autosomal recessive axonal neuropathy with neuromyotonia in two cases of sensorimotor neuropathy and one case of motor neuropathy
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health
Reference22 articles.
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3. Mutation analysis of gap junction protein beta 1 and genotype-phenotype correlation in X-linked Charcot-Marie-Tooth disease in Chinese patients;Sun;Chin Med J (Engl),2016
4. Charcot-Marie-Tooth type X: unusual phenotype of a novel CX32 mutation;Mazzeo;Eur J Neurol,2008
5. INF2 mutations associated with dominant inherited intermediate Charcot-Marie-Tooth neuropathy with focal segmental glomerulosclerosis in two Chinese patients;Jin;Clin Neuropathol,2015
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1. Pathogenic PSAT1 Variants and Autosomal Recessive Axonal Charcot-Marie-Tooth Disease With Ichthyosis;Pediatric Neurology;2023-03
2. The most common European HINT1 neuropathy variant phenotype and its case studies;Frontiers in Neurology;2023-02-17
3. HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling;Orphanet Journal of Rare Diseases;2022-10-14
4. HINT1 neuropathy: Expanding the genotype and phenotype spectrum;Clinical Genetics;2022-08-16
5. A novel mutation in HINT1 gene causes autosomal recessive axonal neuropathy with neuromyotonia, effective treatment with carbamazepine and review of the literature;Acta Neurologica Belgica;2022-06-29
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