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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.1
- 수록면
- 337 - 340 (4page)
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초록· 키워드
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Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is caused by contraction of the D4Z4 repeat array. Recent studies revealedthat the FAT1 expression is associated with disease activity of FSHD, and the FAT1 alterations result in myopathy with a FSHD-like phenotype. We describe a 59-year-old woman with both contracted D4Z4 repeat units and a FAT1 mutation. Shoulder girdle muscle weakness developed at the age of 56 years, and was followed by proximal leg weakness. When we examined her at 59 years of age, she displayed asymmetric and predominant weakness of facial and proximal muscles. Muscle biopsy showed increasedvariation in fiber size and multifocal degenerating fibers with lymphocytic infiltration. Southern blot analysis revealed 8 D4Z4 repeat units, and targeted sequencing of modifier genes demonstrated the c.10331 A>G variant in the FAT1 gene. This FAT1 variant has previously been reported as pathogenic variant in a patient with FSHD-like phenotype. Our study is the first report of a FAT1 mutation in a FSHD1 patient, and suggests that FAT1 alterations might work as a genetic modifier.
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참고문헌 (12)
참고문헌 신청
Park HJ / 2015 / Low D4Z4 copy number and gender difference in Korean patients with facioscapulohumeral muscular dystrophy type 1 / Neuromuscul Disord 25:859~864
Statland JM / 2015 / Milder phenotype in facioscapulohumeral dystrophy with 7-10 residual D4Z4 repeats / Neurology 85:2147~2150
Scionti I / 2012 / Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling / J Med Genet 49:171~178
Sacconi S / 2013 / The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1 / Am J Hum Genet 93:744~751
van den Boogaard ML / 2016 / Mutations in DNMT3B modify epigenetic repression of the D4Z4 repeat and the penetrance of facioscapulohumeral dystrophy / Am J Hum Genet 98:1020~1029
Statland JM / 2015 / Milder phenotype in facioscapulohumeral dystrophy with 7-10 residual D4Z4 repeats / Neurology 85:2147~2150
Scionti I / 2012 / Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling / J Med Genet 49:171~178
Sacconi S / 2013 / The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1 / Am J Hum Genet 93:744~751
van den Boogaard ML / 2016 / Mutations in DNMT3B modify epigenetic repression of the D4Z4 repeat and the penetrance of facioscapulohumeral dystrophy / Am J Hum Genet 98:1020~1029
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