Clinical and electrophysiological phenotype of a homozygously duplicated charcot-marie-tooth (type 1A) disease

European Neurology

Volumn 38, Issue 1, 1997, Pages 26-30

  Sturtz, F G ^a   Latour, P ^a   Mocquard, Y ^c   Cruz, S ^a   Fenoll, B ^c   LeFur, J M ^c   Mabin, D ^c   Chazot, G ^b   Vandenberghe, A ^a  

^a Hopital de l'Antiquaille   (France)

^b HÔPITAL NEUROLOGIQUE   (France)

^c BREST UNIVERSITY HOSPITAL   (France)

Author keywords

Charcot Marie Tooth syndrome; Chromosome 17; Electrophysiological phenotype; Hereditary motor and sensory neuropathy type 1; Nerve conduction velocities

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 17P; CHROMOSOME DUPLICATION; CLINICAL FEATURE; DISEASE SEVERITY; ELECTROPHYSIOLOGY; FEMALE; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOZYGOTE; HUMAN; HUMAN CELL; INHERITANCE; MALE; MOTOR NERVE CONDUCTION; PHENOTYPE; PRIORITY JOURNAL; SCOLIOSIS;

ADULT; AGE OF ONSET; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CHROMOSOMES, HUMAN, PAIR 17; DNA; ELECTROPHYSIOLOGY; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MULTIGENE FAMILY; NEURAL CONDUCTION; PEDIGREE; PHENOTYPE; SCOLIOSIS;

EID: 0030785663     PISSN: 00143022     EISSN: 14219913     Source Type: Journal    
DOI: 10.1159/000112898     Document Type: Article

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