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1. 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 [show details]
… Distal muscular dystrophies are a heterogeneous group of myopathies that include… 3; Welander distal myopathy; Udd distal myopathy (tardive tibial muscular dystrophy) Markesbery-Griggs late onset…
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]
…differential diagnosis for hereditary distal myopathies (without myotonia) includes a number of distal muscular dystrophies/myopathies , such as : Hereditary inclusion body myopathy; Welander distal myopathy; Limb-girdle …
3. 代謝性ミオパチーへのアプローチapproach to the metabolic myopathies [show details]
4. アミロイドーシスの筋骨格系の症状musculoskeletal manifestations of amyloidosis [show details]
… Recessive mutations in anoctamin 5 (ANO5) cause limb-girdle muscular dystrophy 2L and distal muscular dystrophy, which are similar to dysferlin-deficient muscular dystrophy, including case reports of…
5. シャルコー・マリー・トゥース病：遺伝的特性、臨床的特徴、診断charcot marie tooth disease genetics clinical features and diagnosis [show details]
…cases, which may respond to therapy with biotin, pantothenic acid, and lipoic acid. The distal muscular dystrophies are a heterogeneous group of rare genetic myopathies characterized by weakness that starts…