Condition: Charcot-Marie-Tooth Disease


rs587777712 in ARHGEF10 gene and Charcot-Marie-Tooth Disease PMID 25025039 2014 Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

rs113994102 in CTDP1 gene and Charcot-Marie-Tooth Disease PMID 16194727 2005 Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity.

rs199927590 in DNM2 gene and Charcot-Marie-Tooth Disease PMID 25025039 2014 Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

rs387906738 in DYNC1H1 gene and Charcot-Marie-Tooth Disease PMID 21820100 2011 Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.

PMID 25025039 2014 Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

rs756461496 in GDAP1 gene and Charcot-Marie-Tooth Disease PMID 25614874 2014 The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.

rs587781250 in HSPB1 gene and Charcot-Marie-Tooth Disease PMID 25025039 2014 Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

PMID 15122254 2004 Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.

PMID 20660910 2010 Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy.

PMID 22031878 2011 Small heat-shock protein HSPB1 mutants stabilize microtubules in Charcot-Marie-Tooth neuropathy.

PMID 20178975 2010 Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy.

rs142000963 in LMNA gene and Charcot-Marie-Tooth Disease PMID 18478590 2008 Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C.

PMID 25025039 2014 Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

rs119103268 in MFN2 gene and Charcot-Marie-Tooth Disease PMID 25025039 2014 Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

PMID 18425620 2008 Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations.

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

PMID 21531138 2011 Characterizing the phenotypic manifestations of MFN2 R104W mutation in Charcot-Marie-Tooth type 2.

PMID 16714318 2006 MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

rs1553259643 in MPZ gene and Charcot-Marie-Tooth Disease PMID 25614874 2014 The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.

rs199476138 in ND3;COX3;ND4;ND4L;ATP6 gene and Charcot-Marie-Tooth Disease PMID 22933740 2012 Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.

rs864622180 in PMP22 gene and Charcot-Marie-Tooth Disease PMID 25614874 2014 The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.

rs1554122541 in SH3TC2 gene and Charcot-Marie-Tooth Disease PMID 25614874 2014 The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.

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

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

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

PMID 19272779 2009 Five families with AR demyelinating CMT and SH3TC2 mutations were identified, four families were homozygous for the R954X mutation and the fifth family was compound heterozygous for the R954X and E657K mutations.

PMID 25025039 2014 Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.