P2.26 Clinical, histological and molecular genetic features of a congenital severe infantile rimmed vacuolar myopathy
Neuromuscular Disorders(2010)
摘要
Autophagic vacuolar myopathy (AVMs) are heterogeneous conditions including acid maltase deficiency, Danon disease, XMEA and other undefined rimmed vacuolar myopathies. These conditions are related to lysosomal or extralysosomal proteins defects.
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关键词
molecular genetics
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