Molecular genetics & genomic medicine, Vol. 9, Issue 5, Pages e1633, 2021

PMID: 33960727

Duchenne muscular dystrophy (DMD) is an X-linked recessive neuromuscular disorder characterised by progressive irreversible muscle weakness, primarily of the skeletal and the cardiac muscles. DMD is characterised by mutations in the dystrophin gene, resulting in the absence or sparse quantities of dystrophin protein. A precise and timely molecular detection of DMD mutations encourages interventions such as carrier genetic counselling and in undertaking therapeutic measures for the DMD patients.

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  https://www.ncbi.nlm.nih.gov/pubmed/33960727