Lulu Kang Yi Liu Ying Jin Mengqiu Li Jinqing Song Yi Zhang Yao Zhang Yanling Yang
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macf1 myopathy neuromuscular disorder spectraplakinopathy whole exome sequencing
CC BY
https://pubmed.ncbi.nlm.nih.gov/32010038/
Case Reports
PMC6974614
32010038
Mutations of MACF1, Encoding Microtubule-Actin Crosslinking-Factor 1, Cause Spectraplakinopathy
2020