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The new neuromuscular disease related with defects in the ASC ‐1 complex: report of a second case confirms ASCC1 involvement

20 Feb 2017

Abstract excerpt

Next-generation sequencing technology aided the identification of the underlying genetic cause in a female newborn with a severe neuromuscular disorder. The patient presented generalized hypotonia, congenital bone fractures, lack of spontaneous movements and poor respiratory effort. She died within the first days of life. Karyotyping and screening for several genes related with neuromuscular diseases all tested...

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PMID: 28218388
DOI: 10.1111/cge.12997

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