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Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures

16 Oct 2018

Abstract excerpt

Background The activating signal cointegrator 1 (ASC-1) complex acts as a transcriptional coactivator for a variety of transcription factors and consists of four subunits: ASCC1, ASCC2, ASCC3 and TRIP4. A single homozygous mutation in ASCC1 has recently been reported in two families with a severe muscle and bone disorder. Objective We aim to contribute to a better understanding of the ASCC1-related disorder....

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Identifiers

PMID: 30327447
DOI: 10.1136/jmedgenet-2018-105390

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