Condition: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C


rs80338923 in SH3TC2 gene and CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C PMID 22462672 2012 Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C.

PMID 23281072 2013 Charcot-Marie-Tooth disease type 4C in Japan: report of a case.

PMID 14574644 2003 Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

PMID 29321516 2018 Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2.

PMID 17470135 2007 The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.

PMID 16326826 2005 A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes.

PMID 27231023 2016 Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).

PMID 26752306 2016 Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy.

PMID 22978647 2013 Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth.

PMID 16806930 2006 Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2.

PMID 29184351 2019 Clinico-Electrophysiological and Genetic Overlaps and Magnetic Resonance Imaging Findings in Charcot-Marie- Tooth Disease: A Pilot Study from Western India.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 26257172 2015 Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.