Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect

• Published in: Journal of medical genetics Vol. 42; no. 4; pp. 358 - 365
• Main Authors: Claramunt, R, Pedrola, L, Sevilla, T, López de Munain, A, Berciano, J, Cuesta, A, Sánchez-Navarro, B, Millán, J M, Saifi, G M, Lupski, J R, Vílchez, J J, Espinós, C, Palau, F
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01-04-2005; BMJ; BMJ Publishing Group LTD; BMJ Group
• Subjects: Biological and medical sciences; Cardiology. Vascular system; Charcot-Marie-Tooth disease; Charcot-Marie-Tooth Disease - genetics; Charcot-Marie-Tooth disease type 4A; CHN; Chromosome Aberrations; Chromosomes; CMAP; CMT disease; Cohort Studies; compound motor action potential; congenital hypomyelinating neuropathy; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; DNA Mutational Analysis; DSN; Déjérine-Sottas neuropathy; Female; Founder Effect; GDAP1 gene; General aspects. Genetic counseling; Genes; Genetic Testing - methods; Genetic Variation; Genetics; Haplotypes; Hispanic people; Humans; Inheritance Patterns - genetics; Letter to JMG; Male; Medical genetics; Medical sciences; Mendelian inheritance variability; Mutation; NCVs; nerve conduction velocities; Nerve Tissue Proteins - genetics; Neurology; Pedigree; Phenotype; Proteins - genetics; sensory nerve action potential; SNAP; Spain; Spain; Human; Neuromuscular diseases; Nervous system diseases; Variability; Inheritance; Founder effect; Genetic disease; Phenotype; Charcot Marie Tooth disease; Central nervous system disease; Genetics; Degenerative disease; Mutation; Spinal cord disease
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.2004.022178