Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot-Marie-Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE

Neuromuscular Disorders

Volumn 16, Issue 1, 2006, Pages 14-18

  Beauvais, Katell ^a   Furby, Alain ^a   Latour, Philippe ^b  

^a Yves Le Foll Hospital   (France)

^b HÔPITAL DEBROUSSE   (France)

Author keywords

Charcot Marie Tooth neuropathy; Connexin 32 promoter; Electrophysiology; GJB1; LITAF SIMPLE gene polymorphism

Indexed keywords

GAP JUNCTION PROTEIN; MYELIN BASIC PROTEIN; PERIPHERAL MYELIN PROTEIN 22; PROTEIN GJB1; PROTEIN MYELIN ZERO; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CHROMOSOME; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE TRANSMISSION; DNA POLYMORPHISM; ELECTROPHYSIOLOGY; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SCREENING; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; ADULT; AGED; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CONNEXINS; DNA MUTATIONAL ANALYSIS; ELECTROMYOGRAPHY; FAMILY HEALTH; FEMALE; HUMANS; MALE; METHIONINE; MUTATION; NEURAL CONDUCTION; NUCLEAR PROTEINS; PERIPHERAL NERVES; POLYMORPHISM, GENETIC; PROMOTER REGIONS (GENETICS); THREONINE; TRANSCRIPTION FACTORS;

EID: 30644478106     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2005.09.008     Document Type: Article

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