A Novel Homozygous Variant (c.5876t > C: P. Leu1959Pro) in DYSF Segregates with Limb-Girdle Muscular Dystrophy: a Case Report
BMC Musculoskeletal Disorders（2024）
Key words
DYSF,Limb-girdle muscular dystrophy,Dysferlin,Whole-exome sequencing
AI Read Science
Must-Reading Tree
Example
Generate MRT to find the research sequence of this paper
Chat Paper
Summary is being generated by the instructions you defined