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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… Click to show full abstract
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 patients.
Keywords:
contributes muscle;
muscle weakness;
acta1;
weakness;
dysfunctional sarcomere;
nemaline myopathy
Journal Title: Annals of Neurology
Year Published: 2018
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Journal Title: Annals of Neurology
Year Published: 2018
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!