ACTA1

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ACTA1

A gene on chromosome 1q42.13 that encodes alpha actin 1, which is expressed in skeletal muscle. 

Molecular pathology
ACTA1 mutations cause nemaline myopathy type 3, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores and congenital myopathy with fibre-type disproportion.
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References in periodicals archive ?
Initially, was sought contact with the MPFD General Command in order to present the proposal and promote the institutionalization of the research.
The MPFD website, on the Internet, disseminated the research before and during the data collection period.
Data collection took place through a virtual medium, for 15 days, with the availability of a digital form, with an access link on the MPFD website.
In this study, we included semiquantitative criteria in the diagnosis of 3 lesions (VUE, MPFD, and maternal floor infarct), which probably helped to reduce the subjectivity of the reviewer.
The discrepancy rate was higher in the less common lesions, such as MPFD, HEV, fetal thrombotic vasculopathy, and maternal floor infarction, which occurred more often in IUGR than AGA infants.