Charcot-Marie-Tooth 1B caused by expansion of a familial myelin protein zero (MPZ) gene duplication

European Journal of Medical Genetics

Volumn 56, Issue 10, 2013, Pages 566-569

  Speevak, Marsha D ^a,b   Farrell, Sandra A ^a,b  

^a UNIVERSITY OF TORONTO   (Canada)

^b CREDIT VALLEY HOSPITAL   (Canada)

Author keywords

Charcot Marie Tooth disease; Copy number variant; Hypotonia; Microarray; Myelin protein zero

Indexed keywords

ARTICLE; CASE REPORT; FEMALE; GENE; GENE DUPLICATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INFANT; MISSENSE MUTATION; MYELIN PROTEIN ZERO GENE; PHENOTYPE; POLYMERASE CHAIN REACTION;

CHARCOT-MARIE-TOOTH DISEASE; COPY NUMBER VARIANT; HYPOTONIA; MICROARRAY; MYELIN PROTEIN ZERO;

CHARCOT-MARIE-TOOTH DISEASE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENE DOSAGE; GENE DUPLICATION; GENETIC ASSOCIATION STUDIES; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; MYELIN P0 PROTEIN;

EID: 84885381573     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2013.06.004     Document Type: Article

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