A case of Charcot-Marie-Tooth disease 1 B with Val 146Phe mutation of myelin protein zero showing a severe clinical phenotype

Clinical Neurology

Volumn 40, Issue 3, 2000, Pages 268-270

  Ohnishi, Akio ^a   Aoki, Asami ^a   Yamamoto, Tatsunori ^a   Tsuji, Sadatoshi ^a  

^a UNIVERSITY OF OCCUPATIONAL AND ENVIRONMENTAL HEALTH   (Japan)

Author keywords

Charcot Marie Tooth (CMT) disease; CMT disease 1 B; CMT disease 3; Po gene; Point mutation

Indexed keywords

MYELIN PROTEIN;

ADOLESCENT; AREFLEXIA; ARTICLE; CASE REPORT; DEMYELINATION; GAIT DISORDER; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MOTOR NERVE CONDUCTION; MUSCLE ATROPHY; PES EQUINOVARUS; SCOLIOSIS;

ADOLESCENT; AMINO ACID SUBSTITUTION; CHARCOT-MARIE-TOOTH DISEASE; HUMANS; MALE; MYELIN P0 PROTEIN; NEURAL CONDUCTION; PERIPHERAL NERVES; PHENYLALANINE; POINT MUTATION; SEVERITY OF ILLNESS INDEX; VALINE;

EID: 0033927133     PISSN: 0009918X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

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