Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy
FXR1P is a RNA binding protein involved in muscle development. Here, the authors show that mutations in FXR1 exon 15, which is alternatively spliced in muscle, cause multi-minicore myopathy in humans and in mouse models.
Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Nature Publishing Group
2019-02-01
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Series: | Nature Communications |
Online Access: | https://doi.org/10.1038/s41467-019-08548-9 |