Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman

Neurogenetics

Volumn 14, Issue 3-4, 2013, Pages 189-195

  Borgulova I ^a   Mazanec, R ^c   Sakmaryova I ^c   Havlova M ^b   Safka Brozkova D ^c   Seeman, P ^a,c  

^a Gennet   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

^c UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

Author keywords

CMTX1; GJB1 gene; Somatic mutation; X linked inheritance

Indexed keywords

ADULT; ALLELE; ARTICLE; CASE REPORT; CHROMOSOME MOSAICISM; CZECH REPUBLIC; DISEASE SEVERITY; DNA DETERMINATION; DNA SEQUENCE; FAMILIAL DISEASE; FATHER; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENETIC COUNSELING; GENOTYPE; GERM CELL; GJB1 GENE; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HUMAN; KARYOTYPE 46,XX; LEUKOCYTE; MALE; NERVE CONDUCTION; PERIPHERAL NERVOUS SYSTEM; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS; QUANTITATIVE ANALYSIS; SOMATIC MUTATION; X CHROMOSOMAL INHERITANCE; X CHROMOSOME;

ADULT; CHARCOT-MARIE-TOOTH DISEASE; CONNEXINS; CZECH REPUBLIC; FEMALE; GENES, X-LINKED; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MOSAICISM; PERIPHERAL NERVES;

EID: 84888036695     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-013-0368-7     Document Type: Article

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