Double trouble in hereditary neuropathy: Concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes

Archives of Neurology

Volumn 63, Issue 1, 2006, Pages 112-117

  Hodapp, Julie A ^a   Carter, Gregory T ^a   Lipe, Hillary P ^b   Michelson, Sara J ^a   Kraft, George H ^a   Bird, Thomas D ^a,b,c  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b GERIATRIC RESEARCH EDUCATION AND CLINICAL CENTER   (United States)

^c S 182 GRECC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 32; MYELIN PROTEIN; NUCLEOTIDE;

ADRENOLEUKODYSTROPHY; ADULT; ARTICLE; BRAIN ELECTROPHYSIOLOGY; CASE REPORT; CHILD; CLINICAL FEATURE; COURSE EVALUATION; DISEASE SEVERITY; EVALUATION; FEMALE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENETIC ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MISSENSE MUTATION; MUSCULAR DYSTROPHY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PERIPHERAL NERVE; PRIORITY JOURNAL; TANDEM REPEAT; UNIVERSITY HOSPITAL;

ADULT; CHILD; DNA MUTATIONAL ANALYSIS; ELECTROMYOGRAPHY; FAMILY HEALTH; FEMALE; HEREDODEGENERATIVE DISORDERS, NERVOUS SYSTEM; HETEROZYGOTE DETECTION; HUMANS; MALE; MUSCULAR DISEASES; MUTATION; MYELIN PROTEINS; NEURAL CONDUCTION; PHENOTYPE;

EID: 30344448848     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneur.63.1.112     Document Type: Article

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