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

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...

Täydet tiedot

Bibliografiset tiedot

Päätekijät:	Cecilia Contreras-Cubas, Francisco Barajas-Olmos, Maria Inés Frayre-Martínez, Georgina Siordia-Reyes, Claudia C. Guízar-Sánchez, Humberto García-Ortiz, Lorena Orozco, Vicente Baca
Aineistotyyppi:	Artigo
Kieli:	Inglês
Julkaistu:	BMC 2022-06-01
Sarja:	BMC Medical Genomics
Aiheet:	Dysferlinopathy Polymyositis Limb-girdle muscular dystrophy Case report Whole exome sequencing
Linkit:	https://doi.org/10.1186/s12920-022-01284-y
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