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

• Päätekijät: Cecilia Contreras-Cubas (Tekijä), Francisco Barajas-Olmos (Tekijä), Maria Inés Frayre-Martínez (Tekijä), Georgina Siordia-Reyes (Tekijä), Claudia C. Guízar-Sánchez (Tekijä), Humberto García-Ortiz (Tekijä), Lorena Orozco (Tekijä), Vicente Baca (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: BMC, 2022-06-01T00:00:00Z.
• Aiheet: article
• Linkit: Connect to this object online.

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...