A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy.
A novel FLNC c.5161delG (p.Gly1722ValfsTer61) mutation was identified in two members of a French family affected by distal myopathy and in one healthy relative. This FLNC c.5161delG mutation is one nucleotide away from a previously reported FLNC mutation (c.5160delC) that was identified in patients...
Main Authors: | , , , , , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2017-01-01
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Series: | PLoS ONE |
Online Access: | https://doi.org/10.1371/journal.pone.0186642 |