| 1 | FKRP, FKTN, ITGA7, ITGA7D, LAMA2, MDC1A, MDC1B, POMGNT1, POMT1, RSMD1, SEPN1, WLKWS1, WLKWS4
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| Case 35-2006 -- A Newborn Boy with Hypotonia.
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| Brown RH Jr, Grant PE, Pierson CR.
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| N Engl J Med 355(20):2132-2142. No abstract available. 2006
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| 2 | SEPN1, RSMD1
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| A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy.
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| Allamand V, Richard P, Lescure A, Ledeuil C, Desjardin D, Petit N, Gartioux C, Ferreiro A, Krol A, Pellegrini N, Urtizberea JA, Guicheney P.
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| EMBO Rep 7(4):450-4. Epub 2006 Feb 24. 2006
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| 3 | SEPN1, RSMD1
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| Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale.
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| Venance SL, Koopman WJ, Miskie BA, Hegele RA, Hahn AF.
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| Neurology 64(2):395-6. No abstract available. 2005
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| 4 | RSMD1, SEPN1, DRM
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| Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.
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| Ferreiro A, Ceuterick-de Groote C, Marks JJ, Goemans N, Schreiber G, Hanefeld F, Fardeau M, Martin JJ, Goebel HH, Richard P, Guicheney P, Bonnemann CG.
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| Ann Neurol 55(5):676-86. 2004
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| 5 | RSMD1, SEPN1
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| Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.
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| Ferreiro A, Quijano-Roy S, Pichereau C, Moghadaszadeh B, Goemans N, Bonnemann C, Jungbluth H, Straub V, Villanova M, Leroy JP, Romero NB, Martin JJ, Muntoni F, Voit T, Estournet B, Richard P, Fardeau M, Guicheney P.
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| Am J Hum Genet 71(4):739-49. 2002
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| 6 | RSMD1
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| Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study.
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| Flanigan KM, Kerr L, Bromberg MB, Leonard C, Tsuruda J, Zhang P, Gonzalez-Gomez I, Cohn R, Campbell KP, Leppert M.
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| Ann Neurol 47(2):152-61. 2000
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| 7 | RSMD1
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| Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.
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| Moghadaszadeh B, et al.
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| Am J Hum Genet 62 : 1439-1445. 1998
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