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

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...

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Bibliographic Details
Main Authors: Cecilia Contreras-Cubas, Francisco Barajas-Olmos, Maria Inés Frayre-Martínez, Georgina Siordia-Reyes, Claudia C. Guízar-Sánchez, Humberto García-Ortiz, Lorena Orozco, Vicente Baca
Format: Article
Language:English
Published: BMC 2022-06-01
Series:BMC Medical Genomics
Subjects:
Dysferlinopathy
Polymyositis
Limb-girdle muscular dystrophy
Case report
Whole exome sequencing
Online Access:https://doi.org/10.1186/s12920-022-01284-y

Internet

https://doi.org/10.1186/s12920-022-01284-y

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