NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay

CAPN3 mutations cause a limb girdle muscular dystrophy. Functional characterization of novel mutations facilitates diagnosis of future cases. We have identified a novel (c.1992 + 2T>G) CAPN3 mutation that disrupts the donor splice site of intron 17 splicing out exon 17, with mRNA levels severely...

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Veröffentlicht in:Ann Clin Transl Neurol
Hauptverfasser: Mavillard, Fabiola, Madruga‐Garrido, Marcos, Rivas, Eloy, Servián‐Morilla, Emilia, Ávila‐Polo, Rainiero, Marcos, Irene, Morón, Francisco J., Paradas, Carmen, Cabrera‐Serrano, Macarena
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2019
Schlagworte:
Brief Communications
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6856619/
https://ncbi.nlm.nih.gov/pubmed/31612648
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.50910
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