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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)

  1. Savarese M, "Increasing role of titin mutations in neuromuscular disorders", J Neuromuscul Dis, 3, pp.293~308 (2016)
  2. 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)
  3. Pfeffer G, "GeneReviews®" (2014), University of Washington, Seattle
  4. Palmio J, "Expanding the importance of HMERF titinopathy: new mutations and clinical aspects", J Neurol, 266, pp.680~690 (2019)
  5. 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)
  6. 김영은, "Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders", Annals of Laboratory Medicine, 39(5), pp.421~429 (2019), 대한진단검사의학회[DOI]
  7. Palmio J, "Hereditary myopathy with early respiratory failure: occurrence in various populations", J Neurol Neurosurg Psychiatry, 85, pp.345~353 (2014)
  8. Tasca G, "Hereditary myopathy with early respiratory failure (HMERF): Still rare, but common enough", Neuromuscul Disord, 28, pp.268~276 (2018)
  9. 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)
  10. Chauveau C, "A rising titan: TTN review and mutation update", Hum Mutat, 35, pp.1046~1059 (2014)

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