Myotonia and the muscle chloride channel: Dominant mutations show variable penetrance and founder effect

Neurology

Volumn 47, Issue 4, 1996, Pages 963-968

  Koty, P P ^a   Pegoraro, E ^a   Hobson, G ^b   Marks, H G ^b   Turel, A ^c   Flagler, D ^d   Cadaldini, M ^e   Angelini, C ^e   Hoffman, E P ^a  

^a UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^b NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^c GEISINGER MEDICAL CENTER   (United States)

^d BORGESS MEDICAL CENTER   (United States)

^e UNIVERSITY OF PADOVA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE CHANNEL;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; ELECTROMYOGRAPHY; FAMILY HISTORY; FEMALE; GENE MUTATION; HUMAN; MALE; MYOTONIA; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SKELETAL MUSCLE; THOMSEN DISEASE;

EID: 0029830509     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.47.4.963     Document Type: Article

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