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

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 the limbs...

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Detalles Bibliográficos
Autores principales: Contreras-Cubas, Cecilia, Barajas-Olmos, Francisco, Frayre-Martínez, Maria Inés, Siordia-Reyes, Georgina, Guízar-Sánchez, Claudia C., García-Ortiz, Humberto, Orozco, Lorena, Baca, Vicente
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9208210/
https://www.ncbi.nlm.nih.gov/pubmed/35725460
http://dx.doi.org/10.1186/s12920-022-01284-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9208210/
https://www.ncbi.nlm.nih.gov/pubmed/35725460
http://dx.doi.org/10.1186/s12920-022-01284-y

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