병리 및 유전자 분석으로 진단된 무증상 뒤센느근디스트로피 보인자: 임상 표현형 범위 확대
Pathologically and Genetically Diagnosed Subclinical Symptomatic Duchenne Muscular Dystrophy Carrier: Broadened Spectrum of Clinical Phenotype
2
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
A 29-year-old female presented with an elevated level of serum creatine kinase without subjective weakness. Neurologic examination showed the subtle motor weakness of the right arm. Muscle biopsy showed dystrophic changes and a mosaic pattern of dystrophin expression. The diagnosis was confirmed by multiplex ligation-dependent probe amplification and whole-exome sequencing, revealing heterozygous deletion of exon 44 in the DMD gene. Here, we introduce a subclinical symptomatic Duchenne muscular dystrophy carrier, which broadens the clinical spectrum of phenotype.
Abstract
A 29-year-old female presented with an elevated level of serum creatine kinase without subjective weakness. Neurologic examination showed the subtle motor weakness of the right arm. Muscle biopsy showed dystrophic changes and a mosaic pattern of dystrophin expression. The diagnosis was confirmed by multiplex ligation-dependent probe amplification and whole-exome sequencing, revealing heterozygous deletion of exon 44 in the DMD gene. Here, we introduce a subclinical symptomatic Duchenne muscular dystrophy carrier, which broadens the clinical spectrum of phenotype.
참고문헌 (6)
- Cho MS, "A novel single-base mutation mimicking exon deletion of MLPA in symptomatic Duchenne muscular dystrophy carrier", Acta Neurol Belg, 121, pp.287~289 (2021)
- Monckton G, "Prevalence and incidence of muscular dystrophy in Alberta, Canada", Clin Genet, 21, pp.19~24 (1982)
- Tasca G, "Muscle MRI in Becker muscular dystrophy", Neuromuscul Disord, 22(Suppl 2), pp.S100~S106 (2012)
- 송태진, "Three Cases of Manifesting Female Carriers in Patients with Duchenne Muscular Dystrophy", Yonsei Medical Journal, 52(1), pp.192~195 (2011), 연세대학교의과대학
- Barohn RJ, "A pattern recognition approach to patients with a suspected myopathy", Neurol Clin, 32, pp.569~593 (2014)
- Nakamura A, "Mutation-based therapeutic strategies for Duchenne muscular dystrophy: from genetic diagnosis to therapy", J Pers Med, 9, pp.16~ (2019)