Phenotypic presentation of the Ser63Del MPZ mutation

Journal of the Peripheral Nervous System

Volumn 17, Issue 2, 2012, Pages 197-200

  Miller, Lindsey J ^a   Patzko, Agnes ^a   Lewis, Richard A ^a   Shy, Michael E ^a  

^a WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Charcot Marie Tooth 1B; Demyelinating; Myelin protein zero; Unfolded protein response

Indexed keywords

ARGININE; MYELIN PROTEIN; SERINE;

ADULT; AGED; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ELECTROPHYSIOLOGY; GENE DELETION; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MULTIGENE FAMILY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; UNFOLDED PROTEIN RESPONSE;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CHILD, PRESCHOOL; ELECTROPHYSIOLOGICAL PHENOMENA; FEMALE; HUMANS; INFANT; MALE; MUTATION; MYELIN P0 PROTEIN; PEDIGREE; PHENOTYPE; UNFOLDED PROTEIN RESPONSE;

EID: 84863487738     PISSN: 10859489     EISSN: 15298027     Source Type: Journal    
DOI: 10.1111/j.1529-8027.2012.00398.x     Document Type: Article

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