Dysferlinopathy misdiagnosed with juvenile polymyositis in the pre-symptomatic stage of hyperCKemia: a case report and literature review

• Главные авторы: Cecilia Contreras-Cubas (Автор), Francisco Barajas-Olmos (Автор), Maria Inés Frayre-Martínez (Автор), Georgina Siordia-Reyes (Автор), Claudia C. Guízar-Sánchez (Автор), Humberto García-Ortiz (Автор), Lorena Orozco (Автор), Vicente Baca (Автор)
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• Опубликовано: BMC, 2022-06-01T00:00:00Z.
• Предметы: article
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Abstract Background Dysferlinopathy encompasses a group of rare muscular dystrophies caused by recessive mutations in the DYSF gene. The phenotype ranges from asymptomatic elevated serum creatine kinase (hyperCKemia) to selective and progressive involvement of the proximal and/or distal muscles of t...