Affiliation:
1. Birjand University of Medical Sciences
2. Social Welfare Organization of South Khorasan Province
3. Zanjan University of Medical Sciences
Abstract
Abstract
Limb-girdle muscular dystrophy (LGMD) is a type of genetically heterogeneous disorders. The goal of current training is discovering novel mutations or deletion in an Iranian family with limb-girdle muscular dystrophy type 2B patient by whole exome sequencing. Exome sequencing was completed, as well as complete physical examinations of the family. Then, in silico studies have been done to discovery the change that happened in the protein structure, in associated with the DMD phenotype. On chromosome 2p13.2, there was one new nonsense variant: c.6120G>A, p.(Trp2040Ter) in exon 54. These discoveries can developed genetic counseling of this family and others patients in the future.
Publisher
Research Square Platform LLC
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