No abstract available
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Adult
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Genetic Diseases, X-Linked / genetics*
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Genetic Diseases, X-Linked / physiopathology
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Humans
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Lysosomal Storage Diseases / genetics*
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Lysosomal Storage Diseases / physiopathology
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Male
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Muscular Diseases / genetics*
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Muscular Diseases / physiopathology
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Mutation / genetics
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Siblings
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Vacuolar Proton-Translocating ATPases / genetics*
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Young Adult
Substances
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VMA21 protein, human
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Vacuolar Proton-Translocating ATPases
Supplementary concepts
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Myopathy, X-Linked, with Excessive Autophagy
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Vacuolar myopathy