Background Dysferlinopathy is an autosomal recessive muscular dystrophy caused by pathogenic variants in the dysferlin (DYSF) gene. This disease shows heterogeneous clinical phenotypes and genetic characteristics. Methods We reviewed the clinical and pathological data as well as the molecular characteristics of 26 Chinese patients with dysferlinopathy screened by immunohistochemistry staining and pathogenic variants in DYSF genes. Results Among 26 patients with dysferlinopathy, 18 patients (69.2%) presented as Limb-girdle Muscular Dystrophy Type R2 (LGMD R2), 4 (15.4%) had a phenotype of Miyoshi myopathy (MM), and 4 (15.4%) presented as asymptomatic hyperCKemia. Fifteen patients (57.7%) were originally misdiagnosed as inflammatory myopathy or other diseases. Fifteen novel variants were identified among the 40 variant sites identified in this cohort. Conclusion Dysferlinopathy is a clinically and genetically heterogeneous group of disorders with various phenotypes, a high proportion of novel variants, and a high rate of misdiagnosis before immunohistochemistry staining and genetic analysis.

Background 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 genes. Results Among 26 patients with dysferlinopathy, 18 patients (69.2%) presented as LGMD2B, 4 (15.4%) had a phenotype of Miyoshi myopathy (MM), and 4 (15.4%) presented as atypical asymptomatic hyperkalemia(hyperCKemia). 15 patients (57.7%) were originally misdiagnosed as inflammatory myopathy or other diseases. 15 novel mutations were identified among the 40 mutation sites identified in this cohort. Conclusions Dysferlinopathy is a clinically heterogeneous group of disorders with various phenotypes, and has a high proportion of novel mutations and a high rate of misdiagnosis before immunohistochemistry staining and genetic analysis.