Sorbitol dehydrogenase genetics in the mouse: a 'null' mutant in a 'European' C57BL strain - PubMed (original) (raw)

Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature.

Massucco S, Gemelli C, Bellone E, Geroldi A, Patrone S, Mandich P, Scarsi E, Faedo E, Marinelli L, Mongini T, Traverso M, Baratto S, Schenone A, Fiorillo C, Grandis M. Massucco S, et al. Acta Myol. 2023 Dec 20;42(4):113-117. doi: 10.36185/2532-1900-323. eCollection 2023. Acta Myol. 2023. PMID: 38406380 Free PMC article. Review.

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.

Cortese A, Zhu Y, Rebelo AP, Negri S, Courel S, Abreu L, Bacon CJ, Bai Y, Bis-Brewer DM, Bugiardini E, Buglo E, Danzi MC, Feely SME, Athanasiou-Fragkouli A, Haridy NA; Inherited Neuropathy Consortium; Isasi R, Khan A, Laurà M, Magri S, Pipis M, Pisciotta C, Powell E, Rossor AM, Saveri P, Sowden JE, Tozza S, Vandrovcova J, Dallman J, Grignani E, Marchioni E, Scherer SS, Tang B, Lin Z, Al-Ajmi A, Schüle R, Synofzik M, Maisonobe T, Stojkovic T, Auer-Grumbach M, Abdelhamed MA, Hamed SA, Zhang R, Manganelli F, Santoro L, Taroni F, Pareyson D, Houlden H, Herrmann DN, Reilly MM, Shy ME, Zhai RG, Zuchner S. Cortese A, et al. Nat Genet. 2020 May;52(5):473-481. doi: 10.1038/s41588-020-0615-4. Epub 2020 May 4. Nat Genet. 2020. PMID: 32367058 Free PMC article.