Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita

Journal of Neurology Neurosurgery and Psychiatry

Volumn 68, Issue 4, 2000, Pages 504-507

  Davies, N P ^a   Eunson, L H ^a   Gregory, R P ^b   Mills, K R ^c   Morrison, P J ^d   Hanna, M G ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b Battle Hospital   (United Kingdom)

^c KING S COLLEGE HOSPITAL   (United Kingdom)

^d ROYAL GROUP OF HOSPITALS TRUST   (United Kingdom)

Author keywords

Channelopathy; Paramyotonia congenita; Sodium channel

Indexed keywords

AMINO ACID; DNA; MEXILETINE; SODIUM CHANNEL;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BRAIN ELECTROPHYSIOLOGY; CASE REPORT; CHROMOSOME; CHROMOSOME 17Q; CLINICAL EXAMINATION; CLINICAL FEATURE; CONTROLLED STUDY; COOLING; DEVICE; DNA SEQUENCE; ELECTRIC POTENTIAL; EXON; FAMILY STUDY; HUMAN; IRELAND; MALE; MOLECULAR GENETICS; MUSCLE ACTION POTENTIAL; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SKELETAL MUSCLE; THOMSEN DISEASE;

ADULT; CHROMOSOME MAPPING; HUMANS; MALE; MYOTONIC DISORDERS; NEURAL CONDUCTION; PEDIGREE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 0034093449     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.68.4.504     Document Type: Article

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