Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: Expanding the clinical phenotype of MFN2-related neuropathy

Journal of the Peripheral Nervous System

Volumn 20, Issue 4, 2015, Pages 415-418

  Tufano, Maria ^a   Cappuccio, Gerarda ^b   Terrone, Gaetano ^b   Manganelli, Fiore ^b   Pisciotta, Chiara ^b   Geroldi, Alessandro ^c   Capponi, Simona ^c   Del Giudice, Ennio ^b  

^a UNIVERSITY OF FLORENCE   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c UNIVERSITY OF GENOA   (Italy)

Author keywords

Charcot Marie Tooth neuropathy type 2A; electrophysiological study; global developmental delay; MFN2

Indexed keywords

CYTOSINE; MITOFUSIN 2; THYMINE; GUANOSINE TRIPHOSPHATASE; MFN2 PROTEIN, HUMAN; MITOCHONDRIAL PROTEIN;

ARTICLE; BODY DYSMORPHIC DISORDER; CASE REPORT; CHARCOT MARIE TOOTH NEUROPATHY TYPE 2A; CHILD; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; DISEASE SEVERITY; ELECTROENCEPHALOGRAPHY; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LEG DISEASE; LIMB WEAKNESS; MALE; MFN2 GENE; MOTOR NEUROPATHY; NERVOUS SYSTEM ELECTROPHYSIOLOGY; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SENSORY NEUROPATHY; CHARCOT-MARIE-TOOTH DISEASE; COMPLICATION; DEVELOPMENTAL DISABILITIES; GENETICS; MUTATION;

CHARCOT-MARIE-TOOTH DISEASE; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; GTP PHOSPHOHYDROLASES; HUMANS; MALE; MITOCHONDRIAL PROTEINS; MUTATION; NEUROLOGIC EXAMINATION; PHENOTYPE;

EID: 84959541007     PISSN: 10859489     EISSN: 15298027     Source Type: Journal    
DOI: 10.1111/jns.12148     Document Type: Article

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