Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy

We present the case of a male patient who was ultimately diagnosed with Becker muscular dystrophy (BMD; MIM# 300376) after the onset of muscle weakness in his teens progressively led to significant walking difficulties in his twenties. A genetic diagnosis was pursued but initial investigation reveal...

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Detalles Bibliográficos
Autores principales: Berntsson, Shala Ghaderi, Matsson, Hans, Kristoffersson, Anna, Niemelä, Valter, van Duyvenvoorde, Hermine A., Richel-van Assenbergh, Cindy, van der Klift, Heleen M., Casar-Borota, Olivera, Frykholm, Carina, Landtblom, Anne-Marie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10546389/
https://www.ncbi.nlm.nih.gov/pubmed/37795243
http://dx.doi.org/10.3389/fgene.2023.1226766

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10546389/
https://www.ncbi.nlm.nih.gov/pubmed/37795243
http://dx.doi.org/10.3389/fgene.2023.1226766

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