An Ultra-Rare Manifestation of an X-Linked Recessive Disorder: Duchenne Muscular Dystrophy in a Female Patient

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 rec...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9655586/
https://www.ncbi.nlm.nih.gov/pubmed/36361862
http://dx.doi.org/10.3390/ijms232113076

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