Two adjacent Novel missense mutations homozygously in DYSF gene caused Dysferlinopathy due to splicing abnormalities
Release date:
2024-05-24
Description:
This study reported two homozygous adjacent missense mutations in the DYSF gene, presenting clinically with bilateral lower limb weakness and calf swelling. Two homozygous adjacent missense mutations in the DYSF gene may be associated with the development of Dysferlinopathy, but the exact mechanism needs to be further investigated.
Organization: Suizhou Central Hospital affiliated to Hubei University of Medicine
Submission date: 2024-05-24
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