A 'dystrophic' variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene

Neurology

Volumn 55, Issue 11, 2000, Pages 1697-1703

  Nagamitsu, S ^b   Matsuura, T ^b   Khajavi, M ^b   Armstrong, R ^a   Gooch, C ^b   Harati, Y ^b   Ashizawa, Tetsuo ^a,b  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b MICHAEL E DEBAKEY VETERANS AFFAIRS MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE CHANNEL; RNA;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; EXON; FEMALE; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE; HUMAN; MALE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; SKELETAL MUSCLE; THOMSEN DISEASE;

EID: 0034642233     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.55.11.1697     Document Type: Article

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