Article
An Ultra-Rare Manifestation of an X-Linked Recessive Disorder: Duchenne Muscular Dystrophy in a Female Patient.
International journal of molecular sciences - 28 Oct 2022
Szűcs Zsuzsanna, Pinti Éva, Haltrich Irén, Szén Orsolya Pálné, Nagy Tibor, Barta Endre, Méhes Gábor, Bidiga László, Török Olga, Ujfalusi Anikó, Koczok Katalin, Balogh István
Abstract excerpt
Duchenne muscular dystrophy (DMD) is the most common inherited muscle dystrophy. Patients are characterized by muscle weakness, gross motor delay, and elevated serum creatinine kinase (CK) levels. The disease is caused by mutations in the DMD gene located on the X chromosome. Due to the X-linked recessive inheritance pattern, DMD most commonly affects males, who are generally diagnosed between the age of 3-5...
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