Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy

Journal of Neurology Neurosurgery and Psychiatry

Volumn 67, Issue 2, 1999, Pages 174-179

  Mastaglia, F L ^a,d,e   Nowak, K J ^a,c,d   Stell, R ^a,d   Phillips, B A ^a,d   Edmondston, J E ^b   Dorosz, S M ^a,d   Wilton, S D ^a,d   Hallmayer, J ^a   Kakulas, B A ^a,b,d   Laing, N G ^a,b,d  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b ROYAL PERTH HOSPITAL   (Australia)

^c MURDOCH UNIVERSITY   (Australia)

^d PATHWEST LABORATORY MEDICINE   (Australia)

^e QEH Medical Centre   (Australia)

Author keywords

Intermediate Charcot Marie Tooth disease; Missense mutation; Myelin protein zero gene

Indexed keywords

ASPARTIC ACID; MYELIN PROTEIN; TYROSINE;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CODON; DNA FINGERPRINTING; EXON; FAMILY STUDY; FEMALE; GENE MUTATION; GENETIC LINKAGE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; MALE; NERVE BIOPSY; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SURAL NERVE;

EID: 0032810513     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.67.2.174     Document Type: Article

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