1. The clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants.
- Author
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Wang N, Han X, Hao S, Han J, Zhou X, Sun S, Tang J, Lu Y, Wu H, Ma S, Song X, and Ji G
- Subjects
- Humans, China, Diagnostic Errors, Dysferlin genetics, Membrane Proteins genetics, Muscle Proteins genetics, Mutation, Distal Myopathies genetics, Distal Myopathies pathology, Muscular Dystrophies, Limb-Girdle genetics
- Abstract
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., (© 2022. The Author(s).)
- Published
- 2022
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