Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation

Neuromuscular Disorders

Volumn 21, Issue 3, 2011, Pages 223-226

  Murphy, Sinéad M ^a   Laurá, Matilde ^a   Blake, Julian ^a,b   Polke, James ^a   Bremner, Fion ^c   Reilly, Mary M ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b NORFOLK AND NORWICH UNIVERSITY HOSPITAL   (United Kingdom)

^c NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

Author keywords

Charcot Marie Tooth disease; CMT; Conduction block; Myelin protein zero; Tonic pupils

Indexed keywords

MYELIN PROTEIN; MYELIN PROTEIN ZERO; UNCLASSIFIED DRUG;

ADULT; ANISOCORIA; ARTICLE; CASE REPORT; CHROMOSOME DUPLICATION; FOOT MALFORMATION; GENE MUTATION; GENETIC ASSOCIATION; HEMIFACIAL ATROPHY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MUSCLE ATROPHY; NERVE BLOCK; NIGHT VISION; OPHTHALMOSCOPY; PARESTHESIA; PRIORITY JOURNAL; SEQUENCE ANALYSIS; VISUAL FIELD; WALKING DIFFICULTY;

ADULT; CHARCOT-MARIE-TOOTH DISEASE; HUMANS; ISOLEUCINE; MALE; MUTATION; MYELIN P0 PROTEIN; NEURAL CONDUCTION; PUPIL; THREONINE;

EID: 79951954923     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2010.12.010     Document Type: Article

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