The phenotypic manifestations of chromosome 17p11.2 duplication

Brain

Volumn 120, Issue 3, 1997, Pages 465-478

  Thomas, P K ^a,b,d   Marques Jr , W ^a   Davis, M B ^a   Sweeney, M G ^a   King, R H M ^b   Bradley, J L ^b   Muddle, J R ^b   Tyson, J ^c   Malcolm, S ^c   Harding, A E ^a  

^a University Department of Clinical Neurology   (United Kingdom)

^b ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d ROYAL FREE HOSPITAL   (United Kingdom)

Author keywords

Charcot Marie Tooth disease; Hereditary motor and sensory neuropathy; Hypertrophic neuropathy; Peripheral myelin protein 22; Roussy Levy syndrome

Indexed keywords

MYELIN; MYELIN PROTEIN;

ADOLESCENT; ADULT; AGE; AGED; ANUS SPHINCTER; ARM; ARTICLE; CEREBELLUM DISEASE; CHILD; CHROMOSOME 17P; CHROMOSOME DUPLICATION; CLINICAL FEATURE; DENERVATION; DIAPHRAGM PARALYSIS; DISEASE COURSE; DISEASE SEVERITY; ELECTROPHYSIOLOGY; FACIAL NERVE PARALYSIS; FECES INCONTINENCE; FEMALE; GASTROCNEMIUS MUSCLE; GENE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MOTOR NERVE CONDUCTION; MUSCLE CRAMP; MUSCLE HYPERTROPHY; NERVE BIOPSY; NERVE FIBER; ONION; PHENOTYPE; PRIORITY JOURNAL; PROGRESSIVE NEUROGENIC MUSCLE ATROPHY; PYRAMIDAL TRACT; REMYELINIZATION; SENSORY NEUROPATHY; THICKNESS;

ADOLESCENT; ADULT; AGED; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 17; FEMALE; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HUMANS; MALE; MIDDLE AGED; MUSCLE WEAKNESS; PERIPHERAL NERVES; PHENOTYPE;

EID: 0030985749     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/120.3.465     Document Type: Article

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