Unusual Charcot-Marie-Tooth phenotype due to a mutation within the intracellular domain of myelin protein zero

Muscle and Nerve

Volumn 41, Issue 4, 2010, Pages 550-554

  Schneider Gold, Christiane ^a   Kötting, Judith ^b   Epplen, Jörg T ^b   Gold, Ralf ^a   Gerding, Wanda M ^b  

^a ST JOSEF HOSPITAL   (Germany)

^b RUHR UNIVERSITY BOCHUM   (Germany)

Author keywords

Autoimmune; Carpaltunnel syndrome; CMT2; HMSN type 2; Intracellular mutation; IVIg; Key chronic inflammatory neuropathy; Myelin protein zero

Indexed keywords

AZATHIOPRINE; GABAPENTIN; GLUCOCORTICOID; IMMUNOGLOBULIN; MEMBRANE PROTEIN; MYCOPHENOLIC ACID 2 MORPHOLINOETHYL ESTER; PREGABALIN; PROTEIN MPZ; UNCLASSIFIED DRUG;

ADULT; ANAMNESIS; ARTICLE; CARPAL TUNNEL SYNDROME; CASE REPORT; FEMALE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LEG PAIN; MISSENSE MUTATION; MUSCLE CRAMP; NEUROPATHIC PAIN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; RESTLESS LEGS SYNDROME;

ADULT; CHARCOT-MARIE-TOOTH DISEASE; FEMALE; HUMANS; INTRACELLULAR FLUID; MIDDLE AGED; MUTATION, MISSENSE; MYELIN P0 PROTEIN; PEDIGREE; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY;

EID: 77950198820     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21523     Document Type: Article

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