A p.Glu420Gln mutation in SPAST is associated with infantile onset spastic paraplegia complicated by cerebella ataxia, epilepsy, peripheral neuropathy, and hypoplasia of the corpus callosum
Author:
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s10072-022-05879-2.pdf
Reference7 articles.
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3. Richards S, Aziz N, Bale S et al (2015) 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 17:405–424. https://doi.org/10.1038/gim.2015.30
4. Solowska JM, Baas PW (2015) Hereditary spastic paraplegia SPG4: what is known and not known about the disease. Brain 138:2471–2484. https://doi.org/10.1093/brain/awv178
5. Parodi L, Fenu S, Barbier M et al (2018) Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex. Brain 141:3331–3342. https://doi.org/10.1093/brain/awy285
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