NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay
Abstract 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...
Main Authors: | , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Wiley
2019-11-01
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Series: | Annals of Clinical and Translational Neurology |
Online Access: | https://doi.org/10.1002/acn3.50910 |