Article

Heterozygous variants in the mechanosensitive ion channel <i>TMEM63A</i> result in transient hypomyelination during infancy

2019-07-03

Abstract excerpt

Mechanically activated (MA) ion channels convert physical forces into electrical signals. Despite the importance of this function, the involvement of mechanosensitive ion channels in human disease is poorly understood. Here we report heterozygous missense mutations in the gene encoding the MA ion channel TMEM63A that result in an infantile disorder resembling a hypomyelinating leukodystrophy. Four unrelated indivi...

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Literature Corpus work: 08dad8ca-4701-5ddb-be0b-36abce2d165e
DOI: 10.1101/682179

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