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

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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Bibliographic Details
Main Authors: Shala Ghaderi Berntsson, Hans Matsson, Anna Kristoffersson, Valter Niemelä, Hermine A. van Duyvenvoorde, Cindy Richel-van Assenbergh, Heleen M. van der Klift, Olivera Casar-Borota, Carina Frykholm, Anne-Marie Landtblom
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-09-01
Series:Frontiers in Genetics
Subjects:
Becker muscular dystrophy
genetics
MLPA
mRNA
RNA sequencing
intronic variant
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1226766/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2023.1226766/full

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