Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2

Journal of Neurology

Volumn 258, Issue 7, 2011, Pages 1234-1239

  McCorquodale III, Donald S ^a   Montenegro, Gladys ^a   Peguero, Ainsley ^a   Carlson, Nicole ^a   Speziani, Fiorella ^a   Price, Justin ^a   Taylor, Sean W ^b   Melanson, Michel ^b   Vance, Jeffery M ^a   Züchner, Stephan ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b KINGSTON GENERAL HOSPITAL   (Canada)

Author keywords

Charcot Marie Tooth disease; CMT2; CMT2A; Inherited peripheral neuropathies; MFN2; Mitofusin 2

Indexed keywords

MITOFUSIN 2; PERIPHERAL MYELIN PROTEIN 22;

ADOLESCENT; ADULT; AGED; ARTICLE; CHARCOT MARIE TOOTH DISEASE TYPE 2; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DEMYELINATING DISEASE; ETHNICITY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MISSENSE MUTATION; ONSET AGE; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; ADULT; AGED; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENOTYPE; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MITOCHONDRIAL PROTEINS; MUTATION; YOUNG ADULT;

EID: 79961020421     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-011-5910-7     Document Type: Article

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