Clinical, electrophysiological and pathological findings of a patient with CMT2 due to the p.Ala738Val mitofusin 2 mutation

Journal of the Neurological Sciences

Volumn 307, Issue 1-2, 2011, Pages 168-170

  Luigetti, M ^a   Fabrizi, G M ^b   Taioli, F ^b   Conte, A ^a   Del Grande, A ^a   Sabatelli, M ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b UNIVERSITY OF VERONA   (Italy)

Author keywords

CMT; Electromyography; MFN2; Sural nerve biopsy

Indexed keywords

C REACTIVE PROTEIN; CREATINE KINASE; ELECTROLYTE; LIVER ENZYME; MITOFUSIN 2; THYROTROPIN;

ADULT; AREFLEXIA; ARTICLE; BLOOD CELL COUNT; BRAIN ELECTROPHYSIOLOGY; CASE REPORT; CREATININE BLOOD LEVEL; DISEASE COURSE; DISEASE SEVERITY; ELECTROLYTE BLOOD LEVEL; ELECTROPHORESIS; ERYTHROCYTE SEDIMENTATION RATE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; MUSCLE WEAKNESS; MYELIN SHEATH; NERVE CONDUCTION; NERVE FIBER; NEUROLOGIC EXAMINATION; ONSET AGE; PATHOLOGY; PHENOTYPE; POLYNEUROPATHY; PRIORITY JOURNAL; TENDON REFLEX; URINALYSIS;

ADULT; ALANINE; CHARCOT-MARIE-TOOTH DISEASE; ELECTRODIAGNOSIS; FEMALE; GTP PHOSPHOHYDROLASES; HUMANS; MITOCHONDRIAL PROTEINS; NEURAL CONDUCTION; POINT MUTATION; SURAL NERVE; VALINE;

EID: 79959826521     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2011.04.025     Document Type: Article

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