Peripheral Myelin Protein 22 gene duplication with atypical presentations: A new example of the wide spectrum of Charcot-Marie-Tooth 1A disease

Neuromuscular Disorders

Volumn 24, Issue 6, 2014, Pages 524-528

  Mathis, Stéphane ^a   Corcia, Philippe ^b   Tazir, Meriem ^c   Camu, William ^d   Magdelaine, Corinne ^e   Latour, Philippe ^f   Biberon, Julien ^b   Guennoc, Anne Marie ^b   Richard, Laurence ^e   Magy, Laurent ^e   Funalot, Benoît ^e   Vallat, Jean Michel ^e  

^a UNIVERSITÉ DE POITIERS   (France)

^b UNIVERSITY HOSPITAL OF TOURS   (France)

^c CHU Mustapha   (Algeria)

^d GUI DE CHAULIAC HOSPITAL   (France)

^e LIMOGES UNIVERSITY HOSPITAL   (France)

^f HOSPICES CIVILS DE LYON   (France)

Author keywords

Charcot Marie Tooth disease; CMT1A; HNPP; PMP22; Tomacula

Indexed keywords

PERIPHERAL MYELIN PROTEIN 22; MYELIN PROTEIN; PMP22 PROTEIN, HUMAN;

ADULT; ARTICLE; CASE REPORT; CHARCOT MARIE TOOTH TYPE 1A; CHILD; CLINICAL FEATURE; FEMALE; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; KYPHOSCOLIOSIS; LIMB WEAKNESS; MALE; MEDICAL HISTORY; MIDDLE AGED; NERVE BIOPSY; NERVE CONDUCTION; NERVE PARALYSIS; NEUROLOGIC EXAMINATION; PARESTHESIA; PERIPHERAL MYELIN PROTEIN 22 GENE; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; SCHOOL CHILD; CHARCOT-MARIE-TOOTH DISEASE; GENE DUPLICATION; GENETICS; PEDIGREE;

ADULT; CHARCOT-MARIE-TOOTH DISEASE; CHILD; FEMALE; GENE DUPLICATION; HUMANS; MIDDLE AGED; MYELIN PROTEINS; PEDIGREE;

EID: 84900851906     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2014.03.014     Document Type: Article

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