L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype

Neurogenetics

Volumn 11, Issue 3, 2010, Pages 357-366

  Kabzińska, Dagmara ^a   Strugalska Cynowska, Halina ^a   Kostera Pruszczyk, Anna ^b   Ryniewicz, Barbara ^b   Posmyk, Renata ^c   Midro, Alina ^c   Seeman, Pavel ^d   Báranková, Lucia ^d   Zimoń, Magdalena ^e,f   Baets, Jonathan ^e,f,g   Timmerman, Vincent ^e   Guergueltcheva, Velina ^h   Tournev, Ivailo ^h   Sarafov, Stayko ^h   De Jonghe, Peter ^e,f,g   Jordanova, Albena ^e,f   Hausmanowa Petrusewicz, Irena ^a   Kochański, Andrzej ^a  

^a MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

^b MEDICAL UNIVERSITY OF WARSAW   (Poland)

^c MEDICAL UNIVERSITY OF BIALYSTOK   (Poland)

^d CHARLES UNIVERSITY   (Czech Republic)

^e UNIVERSITY OF ANTWERP   (Belgium)

^f UNIVERSITY OF ANTWERP   (Belgium)

^g ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^h MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

Author keywords

Founder effect; Phenotype genotype correlations in CMT4A disease; The L239F mutation in the GDAP1 gene

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 8Q; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; ETHNICITY; FEMALE; FOUNDER EFFECT; GDAP1 GENE; GENE; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HAPLOTYPE MAP; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; L239F PHENOTYPE; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; Q163X PHENOTYPE; S194X PHENOTYPE; SCHOOL CHILD; CHROMOSOME 8; EUROPE; GENE LOCUS; GENETIC ASSOCIATION; GENETICS; MUTATION; ONSET AGE; PATHOLOGY; YOUNG ADULT;

ADOLESCENT; ADULT; AGE OF ONSET; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 8; EUROPE; FEMALE; FOUNDER EFFECT; GENETIC ASSOCIATION STUDIES; GENETIC LOCI; HUMANS; MALE; MUTATION; NERVE TISSUE PROTEINS; PROTEINS; YOUNG ADULT;

GDAP PROTEIN; NERVE PROTEIN; PROTEIN; SH3TC2 PROTEIN, HUMAN;

EID: 77954660497     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-010-0237-6     Document Type: Article

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