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J. M. Polke et al.
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SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system
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Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster
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Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J
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The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4
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Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families
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Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2
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A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes
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Sensorineural hearing impairment in patients with Pmp22 duplication, deletion, and frameshift mutations
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Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene
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Pathology and physiology of auditory neuropathy with a novel mutation in the MPZ gene (Tyr145→Ser)
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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
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AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15
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Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy
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Dispersion of the distal compound muscle action potential as a diagnostic criterion for chronic inflammatory demyelinating polyneuropathy
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The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease
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Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21
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Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease
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The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity
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A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease
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N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom
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Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2
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