지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2012.1
- 수록면
- 212 - 217 (6page)
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초록· 키워드
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Background and Purpose While the etiology and clinical features of “EMG disease” -which is characterized by diffusely increased insertional activity on needle electromyography (EMG) in the absence of neuromuscular disease - are not well known, some authorities believe it may be a form of myotonia congenita (MC). The aims of this study were to determine the clinical features of EMG disease and its relationship with CLCN1 mutations in patients.
Methods The detailed clinical and electrophysiological features of EMG disease were evaluated in six patients. All 23 coding exons and exon-intron boundaries in CLCN1 gene were analyzed by direct sequencing to detect nucleotide changes.
Results The common clinical symptoms of EMG disease were chronic muscle stiffness or generalized myalgia, which were aggravated in a cold environment. Four patients complained of action myotonia several times a year. Short trains of provoked positive sharp waves were documented on needle EMG, but myotonic discharges, fibrillation potentials, and fasciculations were not. Increased insertional activity was identified at the asymptomatic muscles studied.
One novel heterozygous mutation was identified in one patient following genetic testing for CLCN1 mutations (c.1679T>C, p.Met560Thr).
Conclusions The clinical features of EMG disease might be quite similar to those of MC,but CLCN1 mutation was found in only one subject. It is thus difficult to accept that EMG disease lies within the phenotypic spectrum of MC. Additional testing is needed to verify the pathogenetic cause of the diffusely increased insertional activity associated with this condition.
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참고문헌 (15)
참고문헌 신청
Chow DW / 2002 / “EMG disease” with bulbar muscle involvement: a case / Arch Phys Med Rehabil 83 : 568 ~ 569
Day JW / 2003 / Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum / Neurology 60 : 657 ~ 664
Dumitru D / 2002 / Electrodiagnostic Medicine. 2nd ed / Hanley & Belfus : 274 ~ 278
Dumitru D / 2006 / Propagated insertional activity: a model of positive sharp wave generation / Muscle Nerve 34 : 457 ~ 462
Fournier E / 2006 / Cold extends electromyography distinction between ion channel mutations causing myotonia / Ann Neurol 60 : 356 ~ 365
Day JW / 2003 / Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum / Neurology 60 : 657 ~ 664
Dumitru D / 2002 / Electrodiagnostic Medicine. 2nd ed / Hanley & Belfus : 274 ~ 278
Dumitru D / 2006 / Propagated insertional activity: a model of positive sharp wave generation / Muscle Nerve 34 : 457 ~ 462
Fournier E / 2006 / Cold extends electromyography distinction between ion channel mutations causing myotonia / Ann Neurol 60 : 356 ~ 365
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