17p duplicated Charcot-Marie-Tooth 1A: Characteristics of a new population

Journal of Neurology

Volumn 252, Issue 8, 2005, Pages 972-979

  Marques Jr , Wilson ^a   Freitas, Marcos R ^b   Nascimento, Osvaldo J M ^b   Oliveira, Acary B ^c   Calia, Leandro ^c   Melo, Ailton ^d   Lucena, Rita ^d   Rocha, Vera ^d   Barreira, Amilton A ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b FLUMINENSE FEDERAL UNIVERSITY   (Brazil)

^c FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^d FEDERAL UNIVERSITY OF BAHIA   (Brazil)

Author keywords

17p11.2 p12 duplication; Charcot Marie Tooth 1A; Demyelinating neuropathy; Hereditary motor and sensory neuropathy; Nerve conduction studies

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BRAZIL; CAUCASIAN; CHILD; CHROMOSOME 17P; CHROMOSOME DUPLICATION; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; DEMYELINATING DISEASE; DIAPHRAGM; DISEASE COURSE; DISEASE SEVERITY; FEMALE; GENE MUTATION; HAND; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INFANT; INFANTILE HYPOTONIA; LIMB; MAJOR CLINICAL STUDY; MALE; MOTOR NERVE CONDUCTION; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; NEGRO; NEUROLOGIC EXAMINATION; NEWBORN; PAIN; PARESTHESIA; PERONEUS NERVE; POPULATION GENETICS; PRIORITY JOURNAL; SCOLIOSIS; SENSORY DYSFUNCTION; SEX RATIO; WHEELCHAIR;

ADOLESCENT; ADULT; BRAZIL; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 17; DEMOGRAPHY; ELECTRIC STIMULATION; FAMILY HEALTH; FEMALE; GENE DUPLICATION; HUMANS; INFANT; MALE; MIDDLE AGED; MUSCLE, SKELETAL; NEURAL CONDUCTION; REACTION TIME;

EID: 23944460142     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-005-0797-9     Document Type: Article

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