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A Novel TTN Gene Variant c.95136T>G (p.Cys31712Trp) and Associated Clinical Characteristics in a Family With Suspected Hereditary Myopathy With Early Respiratory Failure
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참고문헌 (10)
- Savarese M, "Increasing role of titin mutations in neuromuscular disorders", J Neuromuscul Dis, 3, pp.293~308 (2016)
- Bang ML, "The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system", Circ Res, 89, pp.1065~1072 (2001)
- Pfeffer G, "GeneReviews®" (2014), University of Washington, Seattle
- Palmio J, "Expanding the importance of HMERF titinopathy: new mutations and clinical aspects", J Neurol, 266, pp.680~690 (2019)
- Richards S, "Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology", Genet Med, 17, pp.405~424 (2015)
- 김영은, "Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders", Annals of Laboratory Medicine, 39(5), pp.421~429 (2019), 대한진단검사의학회[DOI]
- Palmio J, "Hereditary myopathy with early respiratory failure: occurrence in various populations", J Neurol Neurosurg Psychiatry, 85, pp.345~353 (2014)
- Tasca G, "Hereditary myopathy with early respiratory failure (HMERF): Still rare, but common enough", Neuromuscul Disord, 28, pp.268~276 (2018)
- Hedberg C, "Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain", Neuromuscul Disord, 24, pp.373~379 (2014)
- Chauveau C, "A rising titan: TTN review and mutation update", Hum Mutat, 35, pp.1046~1059 (2014)
관련 논문AI추천
TTN 유전자 이형접합 과오돌연변이와 연관된 조기 호흡부전을 동반한 선천성 근육병증김대성, 박기홍, 박영은, 손은희, 신진홍, 이완균, 장희진대한신경과학회 · 대한신경과학회지2020 · 제38권 제2호Clinical and Pathological Findings of a Korean Family with Pathogenic Variants of the TTN Gene김세훈, 김승민, 박기덕, 박형준, 신하영, 이정환, 이지현, 최영철, 홍지만대한신경과학회 · Journal of Clinical Neurology2017 · 제13권 제1호A Mutation in the ACTA1 gene Manifesting Nemaline Myopathy with Central Nervous System LesionsAhm M. Huq, Fatema Serajee, Keisuke Ueda대한신경과학회 · Journal of Clinical Neurology2017 · 제13권 제3호First Identifcation of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy김승민, 박형준, 신하영, 이정환, 이지현, 최영철대한신경과학회 · Journal of Clinical Neurology2016 · 제12권 제1호호흡곤란으로 인한 의식저하가 발생한 Tropomyosin 3 (TPM3 ) 유전자 돌연변이에 의한 선천근섬유형불균형 1가계박형준, 이정환, 최영철, 홍지만, 남궁동욱대한신경과학회 · 대한신경과학회지2019 · 제37권 제2호Identification of a Dysferlin Gene Mutation in a Korean Case with Miyoshi Myopathy김태승, 오승헌, 최영철연세대학교의과대학 · Yonsei Medical Journal2004 · 제45권 제5호
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