PMP22 related congenital hypomyelination neuropathy

Journal of Neurology Neurosurgery and Psychiatry

Volumn 70, Issue 1, 2001, Pages 123-126

  Fabrizi, G M ^a   Simonati, A ^a   Taioli, F ^a   Cavallaro, T ^a   Ferrarini, M ^a   Rigatelli, F ^a   Pini, A ^b   Mostacciuolo, M L ^c   Rizzuto, N ^d  

^a UNIVERSITY OF VERONA   (Italy)

^b Arcispedale S Maria Nuova   (Italy)

^c UNIVERSITY OF PADOVA   (Italy)

^d NONE

Author keywords

Congenital hypomyelination neuropathy; Dejerine Sottas syndrome; PMP22

Indexed keywords

ARGININE; CYSTEINE; MYELIN PROTEIN; PERIPHERAL MYELIN PROTEIN 22; UNCLASSIFIED DRUG;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; BASEMENT MEMBRANE; CASE REPORT; CELL DIFFERENTIATION; CELL GROWTH; CLINICAL FEATURE; CODON; DEMYELINATION; FEMALE; HEREDITARY MOTOR SENSORY NEUROPATHY; HISTOPATHOLOGY; HUMAN; MISSENSE MUTATION; MOTOR NERVE CONDUCTION; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; NERVE BIOPSY; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; SCHWANN CELL; SCOLIOSIS; SURAL NERVE;

ADOLESCENT; DEMYELINATING DISEASES; FEMALE; HUMANS; MYELIN PROTEINS; POINT MUTATION; SURAL NERVE;

EID: 0035137482     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.70.1.123     Document Type: Article

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