{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T15:02:58Z","timestamp":1791212578455,"version":"4.1.0"},"reference-count":32,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2004,6,28]],"date-time":"2004-06-28T00:00:00Z","timestamp":1088380800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2004,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Nemaline myopathy (NM) is the most common of several congenital myopathies that present with skeletal muscle weakness and hypotonia. It is clinically heterogeneous and the diagnosis is confirmed by identification of nemaline bodies in affected muscles. The skeletal muscle \u03b1\u2010actin gene (<jats:italic>ACTA1<\/jats:italic>) is one of five genes for thin filament proteins identified so far as responsible for different forms of NM. We have screened the <jats:italic>ACTA1<\/jats:italic> gene in a cohort of 109 unrelated patients with NM. Here, we describe clinical and pathological features associated with 29 <jats:italic>ACTA1<\/jats:italic> mutations found in 38 individuals from 28 families. Although <jats:italic>ACTA1<\/jats:italic> mutations cause a remarkably heterogeneous range of phenotypes, they were preferentially associated with severe clinical presentations (<jats:italic>p<\/jats:italic> &lt; 0.0001). Most pathogenic <jats:italic>ACTA1<\/jats:italic> mutations were missense changes with two instances of single base pair deletions. Most patients with <jats:italic>ACTA1<\/jats:italic> mutations had no prior family history of neuromuscular disease (24\/28). One severe case, caused by compound heterozygous recessive <jats:italic>ACTA1<\/jats:italic> mutations, demonstrated increased \u03b1\u2010cardiac actin expression, suggesting that cardiac actin might partially compensate for <jats:italic>ACTA1<\/jats:italic> abnormalities in the fetal\/neonatal period. This cohort also includes the first instance of an <jats:italic>ACTA1<\/jats:italic> mutation manifesting with adult\u2010onset disease and two pedigrees exhibiting potential incomplete penetrance. Overall, <jats:italic>ACTA1<\/jats:italic> mutations are a common cause of NM, accounting for more than half of severe cases and 26% of all NM cases in this series. Ann Neurol 2004;56:86\u201396<\/jats:p>","DOI":"10.1002\/ana.20157","type":"journal-article","created":{"date-parts":[[2004,6,28]],"date-time":"2004-06-28T17:05:29Z","timestamp":1088442329000},"page":"86-96","source":"Crossref","is-referenced-by-count":134,"title":["Heterogeneity of nemaline myopathy cases with skeletal muscle \u03b1\u2010actin gene mutations"],"prefix":"10.1002","volume":"56","author":[{"given":"Pankaj B.","family":"Agrawal","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne D.","family":"Strickland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles","family":"Midgett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Morales","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel 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