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

Journal of Medical Genetics

Volumn 42, Issue 4, 2005, Pages 358-365

  Claramunt, R ^a   Pedrola, L ^a   Sevilla, T ^b   Lopez De Munain A ^c   Berciano, J ^d   Cuesta, A ^a   Sanchez Navarro B ^a   Millan J M ^b   Saifi, G M ^e   Lupski, J R ^e   Vilchez J J ^b   Espinos C ^a   Palau, Francesc ^a  

^a INSTITUTO DE BIOMEDICINA DE VALENCIA   (Spain)

^b HOSPITAL UNIVERSITARIO LA FE   (Spain)

^c HOSPITAL DONOSTIA   (Spain)

^d HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

^e BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME ANALYSIS; DISEASE SEVERITY; FEMALE; FOUNDER EFFECT; GDAP1 GENE; GENE; GENE EXPRESSION; GENE MUTATION; GENE SEGREGATION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HISPANIC; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SPAIN;

CHARCOT-MARIE-TOOTH DISEASE; CHROMOSOME ABERRATIONS; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; FOUNDER EFFECT; GENETIC SCREENING; HAPLOTYPES; HUMANS; INHERITANCE PATTERNS; MALE; NERVE TISSUE PROTEINS; PEDIGREE; PHENOTYPE; PROTEINS; SPAIN; VARIATION (GENETICS);

EID: 20244374986     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2004.022178     Document Type: Article

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