Distal Muscular Dystrophies
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-031-44009-0_8
Reference116 articles.
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2. Savarese M, Di Fruscio G, Torella A, et al. The genetic basis of undiagnosed muscular dystrophies and myopathies: results from 504 patients. Neurology. 2016;87(1):71–6. https://doi.org/10.1212/WNL.0000000000002800.
3. Ankala A, da Silva C, Gualandi F, et al. A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield. Ann Neurol. 2015;77(2):206–14. https://doi.org/10.1002/ana.24303.
4. Ghaoui R, Cooper ST, Lek M, et al. Use of whole-exome sequencing for diagnosis of limb-girdle muscular dystrophy: outcomes and lessons learned. JAMA Neurol. 2015;72(12):1424–32. https://doi.org/10.1001/jamaneurol.2015.2274.
5. Benarroch L, Bonne G, Rivier F, Hamroun D. The 2020 version of the gene table of neuromuscular disorders (nuclear genome). Neuromuscul Disord. 2019;29(12):980–1018. https://doi.org/10.1016/j.nmd.2019.
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