Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination

Neuron

Volumn 17, Issue 3, 1996, Pages 451-460

  Warner, Laura E ^a   Hilz, Max J ^b   Appel, Stanley H ^a   Killian, James M ^a   Kolodny, Edwin H ^c   Karpati, George ^d   Carpenter, Stirling ^e   Watters, Gordon V ^f   Wheeler, Calvin ⁱ   Witt, David ^g   Bodell, Adria ^g   Nelis, Eva ^h   Van Broeckhoven, Christine ^h   Lupski, James R ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^c NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d MCGILL UNIVERSITY   (Canada)

^e TORONTO WESTERN HOSPITAL   (Canada)

^f MONTREAL CHILDREN S HOSPITAL   (Canada)

^g KAISER PERMANENTE   (United States)

^h DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

ⁱ NONE

Author keywords

[No Author keywords available]

Indexed keywords

MYELIN PROTEIN; STRUCTURAL PROTEIN;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE CLASSIFICATION; DISEASE SEVERITY; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; INFANT; MALE; MISSENSE MUTATION; MYELIN DEFICIENCY; NERVE BIOPSY; NONSENSE MUTATION; PERIPHERAL NERVE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; SURAL NERVE;

EID: 16044362374     PISSN: 08966273     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0896-6273(00)80177-4     Document Type: Article

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