Ontology highlight
ABSTRACT:
SUBMITTER: Joureau B
PROVIDER: S-EPMC5821533 | biostudies-literature | 2018 Feb
REPOSITORIES: biostudies-literature
Joureau Barbara B de Winter Josine Marieke JM Conijn Stefan S Bogaards Sylvia J P SJP Kovacevic Igor I Kalganov Albert A Persson Malin M Lindqvist Johan J Stienen Ger J M GJM Irving Thomas C TC Ma Weikang W Yuen Michaela M Clarke Nigel F NF Rassier Dilson E DE Malfatti Edoardo E Romero Norma B NB Beggs Alan H AH Ottenheijm Coen A C CAC
Annals of neurology 20180206 2
<h4>Objective</h4>Nemaline myopathy (NM) is one of the most common congenital nondystrophic myopathies and is characterized by muscle weakness, often from birth. Mutations in ACTA1 are a frequent cause of NM (ie, NEM3). ACTA1 encodes alpha-actin 1, the main constituent of the sarcomeric thin filament. The mechanisms by which mutations in ACTA1 contribute to muscle weakness in NEM3 are incompletely understood. We hypothesized that sarcomeric dysfunction contributes to muscle weakness in NEM3 pati ...[more]