Condition: Charcot-Marie-Tooth disease type 4


rs63749871 in FGD4 gene and Charcot-Marie-Tooth disease type 4 PMID 17564959 2007 Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H.

PMID 17564972 2007 Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4.

rs121908287 in FIG4 gene and Charcot-Marie-Tooth disease type 4 PMID 24878229 2014 Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease.

PMID 23489662 2013 Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy.

PMID 17572665 2007 Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.

PMID 21705420 2011 Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.

PMID 18556664 2008 Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.

PMID 23623387 2013 Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.

PMID 25614874 2014 The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.

PMID 28251916 2017 Genetic heterogeneity of motor neuropathies.

PMID 24088667 2013 Novel FIG4 mutations in Yunis-Varon syndrome.

rs121434402 in MTMR2 gene and Charcot-Marie-Tooth disease type 4 PMID 10802647 2000 Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

rs1060503092 in NDRG1 gene and Charcot-Marie-Tooth disease type 4 PMID 23996628 2013 Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia.

PMID 12872253 2003 Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease.

rs104894707 in PRX gene and Charcot-Marie-Tooth disease type 4 PMID 12112076 2002 Periaxin mutations cause a broad spectrum of demyelinating neuropathies.

PMID 15469949 2004 Clinicopathological and genetic study of early-onset demyelinating neuropathy.

PMID 15197604 2004 Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease.

PMID 11133365 2001 Periaxin mutations cause recessive Dejerine-Sottas neuropathy.

PMID 26059842 2016 The use of whole-exome sequencing to disentangle complex phenotypes.

PMID 16770524 2006 Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease.

PMID 22847150 2012 Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation.

PMID 27862672 2017 Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients.

PMID 25614874 2014 The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.

rs752649372 in SBF2 gene and Charcot-Marie-Tooth disease type 4 PMID 12687498 2003 Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.

PMID 25873783 2014 Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families.

rs1564872328 in SBF2-AS1;SBF2 gene and Charcot-Marie-Tooth disease type 4 PMID 12687498 2003 Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.

PMID 15477569 2004 A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2).

PMID 25873783 2014 Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families.

rs1554120331 in SH3TC2 gene and Charcot-Marie-Tooth disease type 4 PMID 20220177 2010 Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.

PMID 26392352 2015 Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.

PMID 27068304 2016 Exclusive expression of the Rab11 effector SH3TC2 in Schwann cells links integrin-α6 and myelin maintenance to Charcot-Marie-Tooth disease type 4C.

PMID 21291453 2011 High frequency of SH3TC2 mutations in Czech HMSN I patients.

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

PMID 19744956 2009 Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.

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

PMID 16924012 2006 Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations.

PMID 20826437 2010 SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling.

PMID 23553667 2013 Sh3tc2 deficiency affects neuregulin-1/ErbB signaling.

PMID 20028792 2010 Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C.

PMID 25737037 2015 Phenotypic variability of CMT4C in a French-Canadian kindred.

PMID 18511281 2008 Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.

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

PMID 21840889 2011 Genetic spectrum of hereditary neuropathies with onset in the first year of life.

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

PMID 28555600 2017 Audiological Findings in Charcot-Marie-Tooth Disease Type 4C.