Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases

Brain

Volumn 120, Issue 5, 1997, Pages 813-823

  Birouk, Nazha ^a   Gouider, Riadh ^a   Guern, Eric Le ^b   Gugenheim, Michel ^a   Tardieu, Sandrine ^b   Maisonobe, Thierry ^a   Forestier, Nadine Le ^a   Agid, Yves ^b   Brice, Alexis ^b   Bouche, Pierre ^a,b  

^a INSTITUT DE RECHERCHES INTERNATIONALES SERVIER   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

17p11.2 duplication; CMT1A; Hereditary neuropathy; Nerve conduction studies; Phenotype

Indexed keywords

MYELIN; MYELIN PROTEIN;

ACHILLES REFLEX; ADOLESCENT; ADULT; AGED; AREFLEXIA; ARTICLE; CHILD; CHROMOSOME 17P; CHROMOSOME DUPLICATION; CLINICAL EXAMINATION; CLINICAL FEATURE; DIAGNOSTIC VALUE; DISABILITY; DISEASE COURSE; DISEASE SEVERITY; ELECTROMYOGRAPHY; ELECTROPHYSIOLOGY; ENVIRONMENTAL FACTOR; FEMALE; HEREDITARY MOTOR SENSORY NEUROPATHY; HIGH RISK PATIENT; HUMAN; LEG MUSCLE; MAJOR CLINICAL STUDY; MALE; MEDIAN NERVE; MOTOR NERVE CONDUCTION; MUSCLE ACTION POTENTIAL; MUSCLE ATROPHY; MUSCLE WEAKNESS; NERVE CONDUCTION; NERVE POTENTIAL; ONSET AGE; PENETRANCE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; SCREENING; SENSORY NERVE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 17; DISABILITY EVALUATION; ELECTROPHYSIOLOGY; FEMALE; HUMANS; MALE; MIDDLE AGED; MULTIGENE FAMILY; MUTATION; MYELIN P0 PROTEIN; NERVOUS SYSTEM; PHENOTYPE;

EID: 0030919339     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/120.5.813     Document Type: Article

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