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MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form.
Telese R, Pagliarani S, Lerario A, Ciscato P, Fagiolari G, Cassandrini D, Grimoldi N, Conte G, Cinnante C, Santorelli FM, Comi GP, Sciacco M, Peverelli L. Telese R, et al. Among authors: cassandrini d. Mol Genet Genomic Med. 2020 Sep;8(9):e1320. doi: 10.1002/mgg3.1320. Epub 2020 Jun 24. Mol Genet Genomic Med. 2020. PMID: 32578970 Free PMC article.
Gene symbol: GNE. Disease: Inclusion body myopathy.
Bruno C, Grandis M, Cassandrini D, Bellone E, Mandich P, Gulli R. Bruno C, et al. Among authors: cassandrini d. Hum Genet. 2008 Jun;123(5):552. Hum Genet. 2008. PMID: 20960651 No abstract available.
78 results