Novel chloride channel gene mutations in two unrelated Japanese families with Becker's autosomal recessive generalized myotonia

Neuromuscular Disorders

Volumn 9, Issue 8, 1999, Pages 587-592

  Sasaki, Ryogen ^a   Ichiyasu, Hidenori ^b   Ito, Nobuo ^a   Ikeda, Teruaki ^b   Takano, Hiroki ^c   Ikeuchi, Takeshi ^c   Kuzuhara, Shigeki ^a   Uchino, Makoto ^b   Tsuji, Shoji ^c   Uyama, Eiichiro ^b  

^a MIE UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b KUMAMOTO UNIV SCHOOL OF MEDICINE   (Japan)

^c Niigata University   (Japan)

Author keywords

Becker's myotonia congenita; CLCN1; Japanese families; Long train stimulation; Novel mutations

Indexed keywords

CHLORIDE CHANNEL;

ADULT; ARTICLE; CASE REPORT; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; JAPAN; MUSCLE HYPERTROPHY; MYOTONIA; NERVE STIMULATION; PRIORITY JOURNAL; THOMSEN DISEASE;

ADULT; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CHLORIDE CHANNELS; FEMALE; GENES, RECESSIVE; HUMANS; JAPAN; MIDDLE AGED; MUTATION; MYOTONIA CONGENITA; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0032698081     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(99)00050-4     Document Type: Article

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