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Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1)

✍ Scribed by William Wallefeld; Sabine Krause; Kristen J. Nowak; Danielle Dye; Rita Horváth; Zoltán Molnár; Miklós Szabó; Kazuhiro Hashimoto; Cristina Reina; Jose De Carlos; Jordi Rosell; Ana Cabello; Carmen Navarro; Ichizo Nishino; Hanns Lochmüller; Nigel G. Laing


Book ID
116792736
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
558 KB
Volume
16
Category
Article
ISSN
0960-8966

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Mutations and polymorphisms of the skele
✍ Nigel G. Laing; Danielle E. Dye; Carina Wallgren-Pettersson; Gabriele Richard; N 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 460 KB

The ACTA1 gene encodes skeletal muscle a-actin, which is the predominant actin isoform in the sarcomeric thin filaments of adult skeletal muscle, and essential, along with myosin, for muscle contraction. ACTA1 disease-causing mutations were first described in 1999, when a total of 15 mutations were