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

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Bibliographic Details
Published in:	Journal of medical genetics 2005-04, Vol.42 (4), p.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:	Article
Language:	English
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
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