杆体ジストロフィー : 約 2,480 件
桿体ジストロフィー : 62 件

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1. デュシェンヌ型およびベッカー型筋ジストロフィー：臨床的特徴および診断duchenne and becker muscular dystrophy clinical features and diagnosis [show details]
…Becker muscular dystrophies are reviewed here. Other aspects are discussed separately. Other muscular dystrophies are reviewed elsewhere. The Duchenne and Becker muscular dystrophies (as well as a third …
2. 筋強直性ジストロフィー：病因、臨床的特徴、および診断myotonic dystrophy etiology clinical features and diagnosis [show details]
…dominant conditions are among the most common forms of adult-onset muscular dystrophy. However, DM is more than simply a muscular dystrophy per se, since affected individuals may show cataracts, cardiac conduction …
3. 肢帯型筋ジストロフィーlimb girdle muscular dystrophy [show details]
… weakness – behind the dystrophinopathies (Duchenne and Becker muscular dystrophy), myotonic dystrophy, and facioscapulohumeral muscular dystrophy – with an estimated minimum prevalence of 1 in 20,000 . The age …
4. デュシェンヌ型およびベッカー型筋ジストロフィー：遺伝学的特徴および発症機序duchenne and becker muscular dystrophy genetics and pathogenesis [show details]
…varying clinical characteristics: Duchenne muscular dystrophy (DMD) is associated with the most severe clinical symptoms Becker muscular dystrophy (BMD) has a similar presentation to DMD, but typically …
5. 筋強直性ジストロフィー：治療と予後myotonic dystrophy treatment and prognosis [show details]
… Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2) are autosomal dominant, multisystem disorders characterized by skeletal muscle weakness and myotonia, cardiac conduction abnormalities …