Mutations of MACF1, Encoding Microtubule-Actin Crosslinking-Factor 1, Cause Spectraplakinopathy

Mutations of MACF1, Encoding Microtubule-Actin Crosslinking-Factor 1, Cause Spectraplakinopathy

As a member of spectraplakin family of cytoskeletal crosslinking proteins, microtubule-actin crosslinking factor 1 (MACF1) controls cytoskeleton network dynamics. Knockout of Macf1 in mice resulted in the developmental retardation and embryonic lethality. Spectraplakinopathy type I, a novel neuromus...

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Bibliographic Details
Main Authors: Lulu Kang, Yi Liu, Ying Jin, Mengqiu Li, Jinqing Song, Yi Zhang, Yao Zhang, Yanling Yang
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-01-01
Series:Frontiers in Neurology
Subjects:
myopathy
MACF1
whole exome sequencing
spectraplakinopathy
neuromuscular disorder
Online Access:https://www.frontiersin.org/article/10.3389/fneur.2019.01335/full

Internet

https://www.frontiersin.org/article/10.3389/fneur.2019.01335/full

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