PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies

Orphanet Journal of Rare Diseases

Volumn 9, Issue 1, 2014, Pages

  Van Paassen, Barbara W ^a   Van Der Kooi, Anneke J ^a   Van Spaendonck Zwarts, Karin Y ^a   Verhamme, Camiel ^a   Baas, Frank ^a   De Visser, Marianne ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Charcot Marie Tooth disease type 1A (CMT1A); Clinical description; Demyelinating; Genetic counselling; Hereditary Motor and Sensory Neuropathy type Ia (HMSN Ia); Hereditary Neuropathy with liability to Pressure Palsies (HNPP); Peripheral myelin protein 22 (PMP22)

Indexed keywords

PERIPHERAL MYELIN PROTEIN 22; VINCRISTINE;

AUTOSOMAL DOMINANT INHERITANCE; BRAIN ELECTROPHYSIOLOGY; CHARCOT MARIE TOOTH DISEASE TYPE 1A; DIFFERENTIAL DIAGNOSIS; EXERCISE; GENE DELETION; GENE DUPLICATION; GENETIC COUNSELING; GENETIC DISORDER; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITARY NEUROPATHY PRESSURE PALSY; HUMAN; MOVEMENT THERAPY; NERVE DECOMPRESSION; NEUROPATHY; OCCUPATIONAL THERAPY; ONSET AGE; ORTHOPEDIC SURGERY; PHYSIOTHERAPIST; POINT MUTATION; POLYNEUROPATHY; PRENATAL DIAGNOSIS; PROGNOSIS; REVIEW;

ARTHROGRYPOSIS; CHARCOT-MARIE-TOOTH DISEASE; GENETIC COUNSELING; GENETIC PREDISPOSITION TO DISEASE; HEREDITARY SENSORY AND MOTOR NEUROPATHY; HUMANS; MYELIN PROTEINS; POINT MUTATION; PROGNOSIS;

EID: 84899445196     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-9-38     Document Type: Review

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