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Novel diagnostic features of dysferlinopathies.
Rosales XQ, Gastier-Foster JM, Lewis S, Vinod M, Thrush DL, Astbury C, Pyatt R, Reshmi S, Sahenk Z, Mendell JR. Rosales XQ, et al. Muscle Nerve. 2010 Jul;42(1):14-21. doi: 10.1002/mus.21650. Muscle Nerve. 2010. PMID: 20544924 Free PMC article.
A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics.
Al-Zaidy SA, Malik V, Kneile K, Rosales XQ, Gomez AM, Lewis S, Hashimoto S, Gastier-Foster J, Kang P, Darras B, Kunkel L, Carlo J, Sahenk Z, Moore SA, Pyatt R, Mendell JR. Al-Zaidy SA, et al. Mol Genet Genomic Med. 2015 Mar;3(2):92-8. doi: 10.1002/mgg3.125. Epub 2015 Jan 8. Mol Genet Genomic Med. 2015. PMID: 25802879 Free PMC article.
44 results