ACTA1-Related Nemaline Myopathy Mutations Engender a Range of Structural and Functional Phenotypes in Drosophila Indirect Flight Muscles
Sign Up to like & getrecommendations! Published in 2017 at "Biophysical Journal"
DOI: 10.1016/j.bpj.2016.11.1010
Abstract: Nemaline myopathy is a congenital disorder characterized by muscle weakness. Dominant-negative disease-causing mutations have been identified in various genes that encode sarcomeric thin filament proteins. of these, mutations in skeletal muscle α-actin (ACTA1) account for… read more here.
Keywords: acta1 related; indirect flight; muscle; nemaline myopathy ... See more keywords
Failure to identify modifiers of NEBULIN-related nemaline myopathy in two pre-clinical models of the disease
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DOI: 10.1242/bio.044867
Abstract: ABSTRACT Nemaline myopathy is a rare neuromuscular disorder that affects 1 in 50,000 live births, with prevalence as high as 1 in 20,000 in certain populations. 13 genes have been linked to nemaline myopathy (NM),… read more here.
Keywords: nemaline myopathy; identify modifiers; related nemaline; myopathy ... See more keywords