三好氏遠端肌肉無力症
三好氏遠端肌肉無力症(Distal muscular dystrophy (distal myopathy))是一群主要是發生在手或腳的疾病,其中許多種和戴斯弗林蛋白有關,但不是所有的三好氏遠端肌肉無力症都是如此[1]。是一種隱性遺傳疾病[2]。
三好氏遠端肌肉無力症 | |
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DYSF | |
类型 | 肌肉萎缩症 |
分类和外部资源 | |
醫學專科 | 神經學 |
ICD-10 | G71.0 |
ICD-9-CM | 359.1 |
OMIM | 254130 604454 606768 |
DiseasesDB | 31977 33507 |
MeSH | D049310 |
GeneReviews | |
Orphanet | 399096、59135、63273、5448、599 |
肌病形態
Name | OMIM | Locus |
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三好氏遠端肌病變(日本)[3][4] | 254130 | DYSF基因於2p13.3-p13.1 |
遠端肌病與前脛骨發病[5] | 606768 | DYSF基因於2p13.3-p13.1 |
韋蘭德遠端肌病症 | 604454 | TIA1[6]於2p13[7] |
參考資料
- Murakami N, Sakuta R, Takahashi E; 等. . Brain Dev. December 2005, 27 (8): 589–91 [2014-08-19]. PMID 16310593. doi:10.1016/j.braindev.2005.02.002. (原始内容存档于2019-02-18).
- . [2014-08-19]. (原始内容存档于2014-08-20).
- Soares CN, de Freitas MR, Nascimento OJ, da Silva LF, de Freitas AR, Werneck LC. . Arq Neuropsiquiatr. December 2003, 61 (4): 946–9 [2017-09-10]. PMID 14762596. doi:10.1590/S0004-282X2003000600011. (原始内容存档于2017-09-10).
- Aoki, Masashi. . GeneReviews (University of Washington, Seattle). 1 January 1993 [10 May 2016]. (原始内容存档于2019-02-18).
- . www.omim.org. [31 May 2017] (美国英语).
- Hackman P, Sarparanta J, Lehtinen S, Vihola A, Evilä A, Jonson PH, Luque H, Kere J, Screen M, Chinnery PF, Åhlberg G, Edsröm L & Udd B. . Annals of Neurology. January 2013, 73 (4): 500–509. PMID 23401021. doi:10.1002/ana.23831.
- von Tell D, Bruder CE, Anderson LV, Anvret M, Ahlberg G. . Neurogenetics. August 2003, 4 (4): 173–7. PMID 12836053. doi:10.1007/s10048-003-0154-z.
延伸閱讀
- Udd, Bjarne. . Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. February 2007, 1772 (2): 145–158 [26 August 2016]. doi:10.1016/j.bbadis.2006.08.005.
參見
- 血鐵蛋白(hemosiderin、haemosiderin/含鐵血黄素)
- 戴斯弗林蛋白(Dysferlin/dystrophy-associated fer-1-like protein/營養不良相關的fer-1樣蛋白)
外部連結
- GeneReviews/NCBI/NIH/UW entry on Dysferlinopathy: Miyoshi Distal Myopathy (Miyoshi Myopathy), Limb-Girdle Muscular Dystrophy Type 2B (LGMD2B)页面存档备份,存于
- Slides at neuro.wustl.edu
- Jain Foundation Inc: Research into Miyoshi/LGMD2B页面存档备份,存于
- Muscular Dystrophy Association's website in Greece页面存档备份,存于
- Muscular Dystrophy Association in the USA
分類 | |
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外部資源 |
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