论文信息 - Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1) - 字舞流文

Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1)

N. Darín | M. Tulinius | A. Oldfors | H. Tajsharghi

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[2] N. Petit,et al. Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern. , 2003, Human molecular genetics.

[3] F. Muntoni,et al. 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. , 2002, American journal of human genetics.

[4] F. Muntoni,et al. Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome , 2001, Nature Genetics.

[5] N. Darín,et al. Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene. , 2000, Proceedings of the National Academy of Sciences of the United States of America.