A review of major causative genes in congenital myopathies
Author:
Funder
Japan Agency for Medical Research and Development
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s10038-022-01045-w.pdf
Reference142 articles.
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2. North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, et al. Approach to the diagnosis of congenital myopathies. Neuromuscul Disord. 2014;24:97–116.
3. Jungbluth H, Muntoni F. Therapeutic aspects in congenital myopathies. Semin Pediatr Neurol. 2019;29:71–82.
4. Laitila J, Wallgren-Pettersson C. Recent advances in nemaline myopathy. Neuromuscul Disord. 2021;31:955–67.
5. Saito Y, Nishikawa A, Iida A, Mori-Yoshimura M, Oya Y, Ishiyama A, et al. ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features. Neurology. 2020;95:e1500-11.
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