The phenotype of the Gly94fsX222 PMP22 insertion

Journal of the Peripheral Nervous System

Volumn 16, Issue 2, 2011, Pages 113-118

  De Vries, Sara D J ^a   Verhamme, Camiel ^a   Van Ruissen, Fred ^a   Van Paassen, Barbara W ^a   Arts, Willem F ^b   Kerkhoff, Henk ^c   Van Engelen, Baziel G M ^d   Lammens, Martin ^d   De Visser, Marianne ^a   Baas, Frank ^a   Van Der Kooi, Anneke J ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^c ALBERT SCHWEITZER HOSPITAL   (Netherlands)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

CMT; Frameshift mutation; HNPP; PMP22 protein

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLINICAL ARTICLE; ELECTROMYOGRAPHY; ELECTROPHYSIOLOGY; FACIAL NERVE; FEMALE; GENE; GENE INSERTION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; MALE; MOTOR PERFORMANCE; NERVE BIOPSY; NEUROPATHY; OLFACTORY NERVE; PHENOTYPE; PMP 22 GENE; POINT MUTATION; PRIORITY JOURNAL; PUDENDAL NERVE; SCHOOL CHILD; SENSORIMOTOR NEUROPATHY; SURAL NERVE; TRIGEMINAL NERVE; WEAKNESS; ARTHROGRYPOSIS; GENETICS; MISSENSE MUTATION; PATHOLOGY; PATHOPHYSIOLOGY;

MYELIN PROTEIN; PMP22 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTHROGRYPOSIS; CHARCOT-MARIE-TOOTH DISEASE; CHILD; ELECTROPHYSIOLOGY; FEMALE; HEREDITARY SENSORY AND MOTOR NEUROPATHY; HUMANS; MALE; MUTATION, MISSENSE; MYELIN PROTEINS; PHENOTYPE; POINT MUTATION; YOUNG ADULT;

EID: 80054953700     PISSN: 10859489     EISSN: 15298027     Source Type: Journal    
DOI: 10.1111/j.1529-8027.2011.00333.x     Document Type: Article

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