Article

Unexpected partial RNA deletion by two different novel COL6A2 mutations leads to Ullrich congenital muscular dystrophy

2022-06-15

Abstract excerpt

Limb weakness is an uncommon symptom in children, with multiple factors contributing to related diseases, particularly genetic disorders. A nine-year-old boy presented with slowly progressive muscle weakness of the limb-girdle muscles. We evaluated the clinical symptoms, laboratory tests, imaging examinations, and pathological examinations of this proband. We combined whole-exome and Sanger sequencing to identify...

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Literature Corpus work: f4fd0f43-1c41-59ba-bd42-a5bd3e9e0d3e
DOI: 10.22541/au.165527932.25389709/v1

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