A Novel Mutation (Lys31Arg) in the DMD Gene Impacts on Neuromuscular Dysfunctions found by Whole Exome Sequencing and In Silico Analyses in an Iranian Family

CONCLUSION: In conclusion, our findings revealed no pathogenic effect of the new mutation (K31R) of the DMD gene in an Iranian 25-year-old woman. Because of the DMD importance in preclinical diagnosis, these data may shed a light on the diagnosis of this mutation in future pregnancies.PMID:38265407 | DOI:10.2174/0118746098280408240112112414

Source: Current Aging Science - January 24, 2024 Category: Geriatrics Authors: Vahid Omarmeli Kai-Uwe Lewandrowski Marjan Assefi Hanieh Faizmahdavi Alireza Sharafshah Nasrin Mansouri Source Type: research