A rare case of dysferlinopathy with paternal isodisomy for chromosome 2 determined by exome sequencing
Abstract Background Dysferlinopathies are autosomal recessive muscular dystrophies resulting from defects in DYSF (MIM: 603009), which is located on chromosome 2p13 and encodes the dysferlin protein. Methods We performed exome sequencing and subsequent trio‐based analysis in a family with dysferlino...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2023-02-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.2110 |