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Interfamilial phenotypic heterogeneity in SMARD1.
Joseph S, Robb SA, Mohammed S, Lillis S, Simonds A, Manzur AY, Walter S, Wraige E. Joseph S, et al. Among authors: wraige e. Neuromuscul Disord. 2009 Mar;19(3):193-5. doi: 10.1016/j.nmd.2008.11.013. Epub 2009 Jan 20. Neuromuscul Disord. 2009. PMID: 19157874
Infantile onset myofibrillar myopathy due to recessive CRYAB mutations.
Forrest KM, Al-Sarraj S, Sewry C, Buk S, Tan SV, Pitt M, Durward A, McDougall M, Irving M, Hanna MG, Matthews E, Sarkozy A, Hudson J, Barresi R, Bushby K, Jungbluth H, Wraige E. Forrest KM, et al. Among authors: wraige e. Neuromuscul Disord. 2011 Jan;21(1):37-40. doi: 10.1016/j.nmd.2010.11.003. Epub 2010 Dec 3. Neuromuscul Disord. 2011. PMID: 21130652
75 results