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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2009.1
- 수록면
- 186 - 191 (6page)
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초록· 키워드
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Background and Purpose Mutations of the skeletal muscle sodium channel gene SCN4A,
which is located on chromosome 17q23-25, are associated with various neuromuscular disorders
that are labeled collectively as skeletal muscle sodium channelopathy. These disorders include
hyperkalemic periodic paralysis (HYPP), hypokalemic periodic paralysis, paramyotonia congenita (PMC), potassium-aggravated myotonia, and congenital myasthenic syndrome. This study
analyzed the clinical and mutational spectra of skeletal muscle sodium channelopathy in Korean
subjects.
Methods Six unrelated Korean patients with periodic paralysis or nondystrophic myotonia
associated with SCN4A mutations were included in the study. For the mutational analysis of
SCN4A, we performed a full sequence analysis of the gene using the patients’ DNA. We also analyzed the patients’ clinical history, physical findings, laboratory tests, and responses to treatment.
Results We identified four different mutations (one of which was novel) in all of the patients
examined. The novel heterozygous missense mutation, p.R225W, was found in one patient with
mild nonpainful myotonia. Our patients exhibited various clinical phenotypes: pure myotonia
in four, and PMC in one, and HYPP in one. The four patients with pure myotonia were initially
diagnosed as having myotonia congenita (MC), but a previous analysis revealed no CLCN1
mutation.
Conclusions Clinical differentiating between sodium-channel myotonia (SCM) and MC is
not easy, and it is suggested that a mutational analysis of both SCN4A and CLCN1 is essential
for the differential diagnosis of SCM and MC.
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등록된 정보가 없습니다.
참고문헌 (19)
참고문헌 신청
Bulman DE / 1999 / A novel sodium channel mutation in a family with hypokalemic periodic paralysis / Neurology 53 : 1932 ~ 1936
Cannon SC / 2000 / Spectrum of sodium channel disturbances in the nondystrophic myotonias and periodic paralyses / Kidney Int 57 : 772 ~ 779
George AL Jr / 1991 / Assignment of a human skeletal muscle sodium channel alpha-subunit gene (SCN4A) to 17q23.1-25.3 / Genomics 9 : 555 ~ 556
George AL Jr / 1993 / Molecular basis of Thomsen’s disease (autosomal dominant myotonia congenita) / Nat Genet 3 : 305 ~ 310
Lerche H / 1993 / Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker / J Physiol 470 : 13 ~ 22
Cannon SC / 2000 / Spectrum of sodium channel disturbances in the nondystrophic myotonias and periodic paralyses / Kidney Int 57 : 772 ~ 779
George AL Jr / 1991 / Assignment of a human skeletal muscle sodium channel alpha-subunit gene (SCN4A) to 17q23.1-25.3 / Genomics 9 : 555 ~ 556
George AL Jr / 1993 / Molecular basis of Thomsen’s disease (autosomal dominant myotonia congenita) / Nat Genet 3 : 305 ~ 310
Lerche H / 1993 / Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker / J Physiol 470 : 13 ~ 22
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