Charcot-Marie-Tooth disease type 2J with MPZ Thr124Met mutation: Clinico-electrophysiological and MRI study of a family

Journal of Neurology

Volumn 256, Issue 12, 2009, Pages 2061-2071

  Gallardo, Elena ^a   García, Antonio ^a   Ramón, César ^a   Maraví, Elías ^b   Infante, Jon ^a   Gastón, Itziar ^b   Alonso, Ángel ^b   Combarros, Onofre ^a   De Jonghe, Peter ^c,d   Berciano, José ^a  

^a UNIVERSITY OF CANTABRIA   (Spain)

^b Universidad Pública de Navarra   (Spain)

^c UNIVERSITY OF ANTWERP   (Belgium)

^d ANTWERP UNIVERSITY HOSPITAL   (Belgium)

Author keywords

Adie's pupil; Axonal degeneration; Charcot Marie Tooth disease; CMT2J; Demyelination; MPZ gene; MRI; Muscle fatty atrophy; Nerve conduction study; Thr124Met MPZ gene mutation

Indexed keywords

MYELIN PROTEIN; MYELIN PROTEIN ZERO; UNCLASSIFIED DRUG;

ADIE SYNDROME; ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONTRAST ENHANCEMENT; CONTROLLED STUDY; DISEASE SEVERITY; EDEMA; ELECTROPHYSIOLOGY; EVOKED MUSCLE RESPONSE; FEMALE; GASTROCNEMIUS MUSCLE; GENE MUTATION; GENETIC ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MUSCLE ATROPHY; NERVE CONDUCTION; NEUROIMAGING; NEUROLOGIC EXAMINATION; NEUROPHYSIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYNEUROPATHY; PRIORITY JOURNAL; RATING SCALE; SCORING SYSTEM; SENSORIMOTOR NEUROPATHY;

ADULT; AMINO ACID SUBSTITUTION; CHARCOT-MARIE-TOOTH DISEASE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHOSPHOPROTEINS; PREDICTIVE VALUE OF TESTS;

EID: 71849101630     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-009-5251-y     Document Type: Article

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