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the most common form of muscular dystrophy; inheritance is X-linked recessive (carried by females but affecting only males) (同)pseudohypertrophic dystrophy

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/08/27 10:07:12」(JST)

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A new deletion in 5'-end of dystrophin gene removing M and P promoters and dystrophin muscle enhancers.

Cau M, Boccone L, Mateddu A, Addis M, Serrenti M, Chessa R, Marrosu G, Loudianos G, Melis MA.SourceDipartimento di Sanità Pubblica, medicina clinica e molecolare, Università di Cagliari, Italy.
Gene.Gene.2012 Dec 15;511(2):437-40. doi: 10.1016/j.gene.2012.09.037. Epub 2012 Sep 28.
We describe a 3-year-old boy who, at age of 8months, during investigations for upper respiratory tract infection was found to have an incidental grossly elevated CK of 20,000UI/l. Investigations showed only mild calf hypertrophy and absent Gower's sign, normal cognitive function. Electromyography (E
PMID 23026216

Quantitative changes of nicotinic receptors in the hippocampus of dystrophin-deficient mice.

Ghedini PC, Avellar MC, De Lima TC, Lima-Landman MT, Lapa AJ, Souccar C.SourceDepartment of Pharmacology, Section of Natural Products, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
Brain research.Brain Res.2012 Nov 5;1483:96-104. doi: 10.1016/j.brainres.2012.09.021. Epub 2012 Sep 17.
Lack of dystrophin in Duchenne muscle dystrophy (DMD) and in the mutant mdx mouse results in progressive muscle degeneration, structural changes at the neuromuscular junction, and destabilization of the nicotinic acetylcholine receptors (nAChRs). One-third of DMD patients also present non-progressiv
PMID 22995368

Nishida Atsushi,Kataoka Naoyuki,Takeshima Yasuhiro,Yagi Mariko,Awano Hiroyuki,Ota Mitsunori,Itoh Kyoko,Hagiwara Masatoshi,Matsuo Masafumi
Nature communications 2, 2011-05-10
… 2011-05-11.Duchenne muscular dystrophy (DMD) is a fatal muscle wasting disease caused by a loss of the dystrophin protein. …
NAID 120003001398

リンク元	「デュシェンヌ」
拡張検索	「Duchenne-Griesinger dystrophy」「Duchenne muscular dystrophy」「Duchenne型ジストロフィー」