Clinical and genetic evaluation of hereditary myopathies in an adult Saudi cohort
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Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1186/s12883-024-03838-2.pdf
Reference24 articles.
1. Dowling JJ, Weihl CC, Spencer MJ. Molecular and cellular basis of genetically inherited skeletal muscle disorders. Nat Rev Mol Cell Biol. 2021;22(11):713–32. https://doi.org/10.1038/s41580-021-00389-z.
2. Mercuri E, Muntoni F. Muscular dystrophies. Lancet. 2013;381(9869):845–60. https://doi.org/10.1016/S0140-6736(12)61897-2.
3. Monies D, Alhindi HN, Almuhaizea MA, et al. A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies. Hum Genomics. 2016;10:32. https://doi.org/10.1186/s40246-016-0089-8.
4. Bohlega SA, Alfawaz S, Abou-Al-Shaar H, et al. LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation. Acta Myol. 2018;37(3):221–6.
5. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–24. https://doi.org/10.1038/gim.2015.30.
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