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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Child
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Diagnosis, Differential
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Female
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Humans
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Male
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Mexico
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Mutation*
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Neuromuscular Diseases / diagnosis*
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Neuromuscular Diseases / genetics*
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Neuromuscular Diseases / pathology
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Neuromuscular Diseases / physiopathology
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Pentosyltransferases
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Proteins / genetics*
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Proteins / metabolism
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Young Adult
Substances
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Proteins
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FKRP protein, human
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Pentosyltransferases