WordNet
- any degenerative disorder resulting from inadequate or faulty nutrition
PrepTutorEJDIC
- 栄養障害 / 筋萎縮症,筋ジストロフィー(筋肉の退化・萎縮・運動障害などが起こる病気)
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- 1. 顔面肩甲上腕型筋ジストロフィー facioscapulohumeral muscular dystrophy
- 2. デュシェンヌ型およびベッカー型筋ジストロフィーの治療 treatment of duchenne and becker muscular dystrophy
- 3. エメリー‐ドレフェス型筋ジストロフィー emery dreifuss muscular dystrophy
- 4. デュシェンヌ型およびベッカー型筋ジストロフィーの臨床的特徴および診断 clinical features and diagnosis of duchenne and becker muscular dystrophy
- 5. 眼咽頭型、遠位型，および先天性筋ジストロフィー oculopharyngeal distal and congenital muscular dystrophies
English Journal
- A novel VCP mutation underlies scapuloperoneal muscular dystrophy and dropped head syndrome featuring lobulated fibers.
- Liewluck T1, Milone M, Mauermann ML, Castro-Couch M, Cerhan JH, Murthy NS.
- Muscle & nerve.Muscle Nerve.2014 May 16. doi: 10.1002/mus.24290. [Epub ahead of print]
- Introduction: Valosin-containing protein (VCP) is a ubiquitously expressed, multifunctional AAA-ATPase protein. Its dominant mutations cause a hereditary inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia (IBMPFD) or amyotrophic lateral sclerosis. The pattern o
- PMID 24838343
- FHL1 mutants that cause clinically distinct human myopathies form protein aggregates and impair myoblast differentiation.
- Wilding BR1, McGrath MJ1, Bonne G2, Mitchell CA3.
- Journal of cell science.J Cell Sci.2014 May 15;127(Pt 10):2269-81. doi: 10.1242/jcs.140905. Epub 2014 Mar 14.
- FHL1 mutations cause several clinically heterogeneous myopathies, including reducing body myopathy (RBM), scapuloperoneal myopathy (SPM) and X-linked myopathy with postural muscle atrophy (XMPMA). The molecular mechanisms underlying the pathogenesis of FHL1 myopathies are unknown. Protein aggregates
- PMID 24634512
Japanese Journal
- Clinical Heterogeneity in Dysferlinopathy
- Ueyama Hidetsugu,Kumamoto Toshihide,Horinouchi Hideo [他],FIJIMOTO Shin,AONO Hiroshi,TSUDA Tomiyasu
- Internal medicine 41(7), 532-536, 2002-07-01
- … Based on the initial distribution of muscle involvement, clinical phenotypes were divided into four subtypes: limb-girdle type, Miyoshi's type, distal anterior compartment type, or scapuloperoneal type. …
- NAID 10009277900
Related Links
- Scapuloperoneal muscular dystrophy symptoms, causes, diagnosis, and treatment information for Scapuloperoneal muscular dystrophy (Scapuloperoneal myopathy, MYH7-related) with alternative diagnoses, full-text book chapters ...
- Scapuloperoneal dystrophy symptoms, causes, diagnosis, and treatment information for Scapuloperoneal dystrophy (Scapuloperoneal myopathy) with alternative diagnoses, full-text book chapters, misdiagnosis, research treatments ...
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★リンクテーブル★
| リンク元 | 「肩甲腓骨型筋ジストロフィー」 |
| 関連記事 | 「dystrophy」 |
「肩甲腓骨型筋ジストロフィー」
- 英
- scapuloperoneal muscular dystrophy scapuloperoneal dystrophy
- 関
- エメリ・ドレフュシュ型筋ジストロフィー エメリ・ドレフュス型筋ジストロフィー Emery-Dreifuss muscular dystrophy
「dystrophy」
- n.
- (医)栄養失調、栄養失調症。(医)異栄養、異栄養症、ジフトロフィー
- 栄養障害。細胞や組織の物質代謝障害によって変性・萎縮などの起こること。