Severe Charcot-Marie-Tooth disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation

Journal of the Peripheral Nervous System

Volumn 18, Issue 2, 2013, Pages 181-184

  Vital, Anne ^a,b   Sole, Guilhem ^a,b   Casenave, Philippe ^b   Magdelaine, Corinne ^c   Ferrer, Xavier ^a,b   Vital, Claude ^a   Goizet, Cyril ^a,b  

^a UNIVERSITÉ DE BORDEAUX   (France)

^b BORDEAUX UNIVERSITY HOSPITAL   (France)

^c LIMOGES UNIVERSITY HOSPITAL   (France)

Author keywords

CMT1E; collagen; demyelinating neuropathy; peripheral nerve biopsy; PMP22 point mutation

Indexed keywords

COLLAGEN FIBRIL; IMMUNOGLOBULIN; PERIPHERAL MYELIN PROTEIN 22;

ADULT; ARTICLE; BASEMENT MEMBRANE; CASE REPORT; CEREBROSPINAL FLUID; CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHY; DISEASE SEVERITY; DRUG TREATMENT FAILURE; EXON; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; IMMUNOTHERAPY; LUMBAR PUNCTURE; MALE; MOTOR NERVE CONDUCTION; MYELINATED NERVE; NERVE BIOPSY; NUCLEOTIDE SEQUENCE; ONION; PERONEUS NERVE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN CEREBROSPINAL FLUID LEVEL;

ADULT; CHARCOT-MARIE-TOOTH DISEASE; HUMANS; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MYELIN PROTEINS; POINT MUTATION; SURAL NERVE;

EID: 84879328681     PISSN: 10859489     EISSN: 15298027     Source Type: Journal    
DOI: 10.1111/jns5.12028     Document Type: Article

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