| 1 | CFTD2, SEPN1
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| SEPN1-related myopathies: clinical course in a large cohort of patients.
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| Scoto M, Cirak S, Mein R, Feng L, Manzur AY, Robb S, Childs AM, Quinlivan RM, Roper H, Jones DH, Longman C, Chow G, Pane M, Main M, Hanna MG, Bushby K, Sewry C, Abbs S, Mercuri E, Muntoni F.
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| Neurology 76(24):2073-8.
2011
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| 2 | CFTD2, SEPN1
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| New molecular findings in congenital myopathies due to selenoprotein N gene mutations.
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| Cagliani R, Fruguglietti ME, Berardinelli A, D'Angelo MG, Prelle A, Riva S, Napoli L, Gorni K, Orcesi S, Lamperti C, Pichiecchio A, Signaroldi E, Tupler R, Magri F, Govoni A, Corti S, Bresolin N, Moggio M, Comi GP.
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| J Neurol Sci 300(1-2):107-13.
2011
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| 3 | CFTD2, SEPN1
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| SEPN1: associated with congenital fiber-type disproportion and insulin resistance.
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| Clarke NF, Kidson W, Quijano-Roy S, Estournet B, Ferreiro A, Guicheney P, Manson JI, Kornberg AJ, Shield LK, North KN.
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| Ann Neurol 59(3):546-52. 2006
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| 4 | SEPN1, CFTD2
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| Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene.
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| Okamoto Y, Takashima H, Higuchi I, Matsuyama W, Suehara M, Nishihira Y, Hashiguchi A, Hirano R, Ng AR, Nakagawa M, Izumo S, Osame M, Arimura K.
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| Neurogenetics 7(3):175-83. Epub 2006 Jun 15. 2006
|