A unique case of dysferlinopathy with a large-segment duplication mutation who experienced rapid deterioration after small-dosage corticosteroid treatment

Journal of the Neurological Sciences(2017)

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摘要
•We present a case of dysferlinopathy with a large-segment duplication mutation.•The patient was obviously aggravated after small-dosage steroid treatment.•Steroids might have a negative effect on dysferlin expression or function.
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关键词
Dysferlinopathy,Duplication mutation,Corticosteroid,Deterioration
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