Hereditary and Acquired Myopathies
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Publisher
Springer International Publishing
Link
http://link.springer.com/content/pdf/10.1007/978-3-319-43153-6_43
Reference127 articles.
1. Salih MA. Hereditary and acquired myopathies. In: Textbook of clinical pediatrics 2012. Berlin: Springer; 2012. p. 3503–41.
2. Ravenscroft G, Davis MR, Lamont P, Forrest A, Laing NG. New era in genetics of early-onset muscle disease: breakthroughs and challenges. Semin Cell Dev Biol. 2017;64:160–70.
3. Zaharieva IT, Thor MG, Oates EC, van Karnebeek C, Hendson G, Blom E, et al. Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy. Brain. 2016;139(Pt 3):674–91.
4. Böhm J, Vasli N, Malfatti E, et al. An integrated diagnosis strategy for congenital myopathies. PLoS One. 2013;8(6):e67527. https://doi.org/10.1371/journal.pone.0067527 .
5. Bamaga AK, Weihl CC. Establishing prevalence in rare neuromuscular diseases: a lesson from congenital myopathies. Neurol Genet. 2017;3(2):e146.
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