Variant: rs121908188 

    present in Gene: SELENON
    present in Chromosome: 1
    Position on Chromosome: 25809753
    Alleles of this Variant: G/A;C

rs121908188 in SELENON gene and Congenital Fiber Type Disproportion PMID 23394784 2013 Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.

PMID 12192640 2002 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.

PMID 17951086 2008 The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy.

PMID 16365872 2006 Two sisters with CFTD were homozygous for the 943G-->A SEPN1 mutation and had clinical features typical of previously reported patients with SEPN1-related myopathy.

PMID 15668457 2005 Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale.

rs121908188 in SELENON gene and Eichsfeld type congenital muscular dystrophy PMID 12192640 2002 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.

PMID 18713863 2008 Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle.

PMID 15122708 2004 Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.

PMID 11528383 2001 Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.

PMID 19067361 2009 A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy.

PMID 16365872 2006 SEPN1: associated with congenital fiber-type disproportion and insulin resistance.

PMID 15668457 2005 Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale.

PMID 21078917 2010 Consensus statement on standard of care for congenital muscular dystrophies.

PMID 17951086 2008 The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy.

PMID 23394784 2013 Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.