congenital structural myopathy

出典: meddic


centronuclear myopathycongenital fiber type disproportioncongenital myopathymyotubular myopathy

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.


  • A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness.
  • Willis T1, Hedberg-Oldfors C2, Alhaswani Z1, Kulshrestha R1, Sewry C1, Oldfors A3.
  • Journal of neurology.J Neurol.2016 May 13. [Epub ahead of print]
  • Myosin heavy chain (MyHC) is a major structural component of the striated muscle contractile apparatus. In adult human limb skeletal muscle, there are three major MyHC isoforms, slow/beta cardiac MyHC, MyHC IIa and MHC IIx, which are important for the functional characteristics of different muscle f
  • PMID 27177998
  • Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
  • Zaharieva IT1, Thor MG2, Oates EC3, van Karnebeek C4, Hendson G5, Blom E4, Witting N6, Rasmussen M7, Gabbett MT8, Ravenscroft G9, Sframeli M1, Suetterlin K2, Sarkozy A1, D'Argenzio L1, Hartley L10, Matthews E2, Pitt M11, Vissing J6, Ballegaard M12, Krarup C12, Slørdahl A13, Halvorsen H14, Ye XC4, Zhang LH4, Løkken N6, Werlauff U15, Abdelsayed M16, Davis MR17, Feng L1, Phadke R1, Sewry CA1, Morgan JE18, Laing NG9, Vallance H4, Ruben P16, Hanna MG2, Lewis S4, Kamsteeg EJ19, Männikkö R2, Muntoni F20.
  • Brain : a journal of neurology.Brain.2016 Mar;139(Pt 3):674-91. doi: 10.1093/brain/awv352. Epub 2015 Dec 22.
  • See Cannon (doi:10.1093/brain/awv400) for a scientific commentary on this article.Congenital myopathies are a clinically and genetically heterogeneous group of muscle disorders characterized by congenital or early-onset hypotonia and muscle weakness, and specific pathological features on muscle biop
  • PMID 26700687
  • NEB-related core-rod myopathy with distinct clinical and pathological features.
  • Park YE1,2, Shin JH1,3, Kang B3, Lee CH2,4, Kim DS1,3.
  • Muscle & nerve.Muscle Nerve.2016 Mar;53(3):479-84. doi: 10.1002/mus.24966. Epub 2016 Jan 18.
  • INTRODUCTION: Mutations in the gene encoding nebulin (NEB) are known to cause several types of congenital myopathy including recessive nemaline myopathy and distal nebulin myopathy. Core-rod myopathy has recently been reported to be another type of NEB-related myopathy, and is pathologically charact
  • PMID 26562614


  • 新生豚にみられた先天性過骨症
  • 藍澤 重之,新井 佐知子,伊東 正吾,代田 欣二,Shigeyuki Aizawa,Sachiko Arai,Seigo Ito,Kinji Shirota
  • 麻布大学雑誌 = Journal of Azabu University 21/22, 129-134, 2011-03-31
  • Congenital hyperostosis is a rare disease of newborn pigs, characterized by thickening and sclerosis of the forelimbs. … the piglet showed thickening and sclerosis of the forelimbs, and the bone lesions were diagnosed as congenital hyperostosis. …
  • NAID 120005406552
  • <no title>
  • 福田 哲夫,小林 繁一,山本 佳史,鴨下 重彦
  • 脳と発達 15(5), 425-431, 1983
  • Congenital fiber type dysproportion (CFD) is a common histochemical and histographic picture characterized by relatively small type 1 fibers frequently with type 1 fiber predominance and relatively large type 2 fibers. …
  • NAID 130004182041
  • Congenital Myopathy with Type 2 Fiber Deficiency and without Specific Structural Abnormalities
  • 宇根 幸治,佐藤 親子,原口 宏之
  • 脳と発達 12(6), 554-556, 1980
  • … There was no neuropathic abnormality nor was evidence of metabolic muscle disorder.<BR>Although type 2 fiber deficiency can be recognized in muscles after denervation and with nemaline myopathy, type 2 fiber deficiency without any structural abnormality as seen in the present case has not been documented in detail. …
  • NAID 130004181900


myopathy [mi-op´ah-the] any disease of a muscle. adj., adj myopath´ic. centronuclear myopathy myotubular myopathy. distal myopathy an autosomal dominant form of muscular dystrophy, appearing in two types. The first has onset ...
my·op·a·thy (mī-ŏp′ə-thē) n. pl. my·op·a·thies A disease of muscle or muscle tissue. my′o·path′ic (mī′ə-păth′ĭk) adj. myopathy (maɪˈɒpəθɪ) n, pl-thies (Pathology) any disease affecting muscles or muscle tissue my•op•a•thy (maɪˈɒp ə ...


Congenital Myopathies Types,Centronuclear nemaline myopathy nemaline myopathy emMyopathies, Structural, Congenital Myopathies, Structural, Congenital Myopathies, Structural, Congenital nemaline myopathy nemaline myopathy

先読みmyotubular myopathy
リンク元congenital fiber type disproportion」「先天性構造ミオパチー」「先天性ミオパチー」「congenital myopathy

myotubular myopathy」

  [★] ミオチュブラーミオパチー

congenital fiber type disproportion」



centronuclear myopathycongenital structural myopathymyotubular myopathy



congenital structural myopathy



congenital myopathycongenital structural myopathy

congenital myopathy」



congenital structural myopathy



  • adj.
  • 構造上の、構造的な、構造学的な、立体構造的な

WordNet   license wordnet

「relating to or having or characterized by structure; "structural engineer"; "structural errors"; "structural simplicity"」

WordNet   license wordnet

「affecting or involved in structure or construction; "the structural details of a house such as beams and joists and rafters; not ornamental elements"; "structural damage"」

WordNet   license wordnet

「concerned with systematic structure in a particular field of study」

WordNet   license wordnet

「relating to or caused by structure, especially political or economic structure; "structural unemployment in a technological society"」

PrepTutorEJDIC   license prepejdic

「構造[上]の,構成[上]の,組織[上]の / 建築[用]の」



  • adj.
  • 生まれつきの、先天的な

WordNet   license wordnet

「present at birth but not necessarily hereditary; acquired during fetal development」
inborn, innate

PrepTutorEJDIC   license prepejdic




  • adj.
  • (後置するラテン語形容詞)先天性の
  • ex.


  [★] 筋疾患

WordNet   license wordnet

「any pathology of the muscles that is not attributable to nerve dysfunction」