Article

Clinical heterogeneity and molecular characteristics in a group of Chinese patients with dysferlinopathy

2022-07-11

Abstract excerpt

<h4>Background: </h4> Dysferlinopathy is an autosomal recessive muscular dystrophy caused by mutations in the dysferlin ( DYSF ) gene. This study presents the clinical features and mutational spectrum of a Chinese cohort. Methods We reviewed the clinical, pathological data and results of DYSF mutations of 26 Chinese patients with dysferlinopathy screened by immunohistochemistry staining and mutations in DYSF gene...

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Literature Corpus work: 1cc50a3f-9ff1-5b8a-90a7-21f0e6807bd9
DOI: 10.21203/rs.3.rs-1773084/v1

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