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호흡곤란으로 인한 의식저하가 발생한 Tropomyosin 3 (TPM3 ) 유전자 돌연변이에 의한 선천근섬유형불균형 1가계

A Family of Congenital Fiber Type Disproportion with Mutation in Tropomyosin 3 (TPM3) Gene Presenting as Altered Mentality with Respiratory Distress

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참고문헌 (8)

  1. Clarke NF, "Mutations in TPM3 are a common cause of congenital fiber type disproportion", Ann Neurol, 63, pp.329~337 (2008)
  2. Michael W, "Mutations of tropomyosin 3(TPM3)are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion", Hum Mutat, 31, pp.176~183 (2010)
  3. Clarke NF, "Congenital fiber-type disproportion", Semin Pediatr Neurol, 18, pp.264~271 (2011)
  4. Marttila M, "Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies", Hum Mutat, 35, pp.779~790 (2014)
  5. 정유리, "TPM3유전자 이형접합 과오돌연변이에 의한 캡근병증", 대한신경과학회지, 34(3), pp.224~227 (2016), 대한신경과학회[DOI]
  6. Park YE, "Characterization of congenital myopathies at a Korean neuromuscular center", Muscle Nerve, 58, pp.235~244 (2018)
  7. Yuen M, "Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres", Hum Mol Genet, 24, pp.6278~6292 (2015)
  8. Waddell LB, "Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3", Neuromuscul Disord, 20, pp.464~466 (2010)

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