An ultra-rare manifestation of an x-linked recessive disorder: duchenne muscular dystrophy in a female patient

HIGHLIGHTS

• who: Zsuzsanna Szu0171cs et al. from the Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen have published the Article: An Ultra-Rare Manifestation of an X-Linked Recessive Disorder: Duchenne Muscular Dystrophy in a Female Patient, in the Journal: (JOURNAL) of 26/Oct/2022
• how: Obtained data was analysed using the Genomic Workbench 7.0 software.

SUMMARY

The disease itself is caused by mutations in the DMD gene located on the reverse strand of the X chromosome (Xp21.2-Xp21.1); the canonical transcript . . .

 



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