Condition: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)


rs118192140 in RYR1 gene and MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) PMID 17483490 2007 Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.

PMID 22473935 2012 Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 22009146 2012 Clinical utility gene card for: Multi-minicore disease.

PMID 21911697 2011 Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations.

PMID 20080402 2010 Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene.

PMID 12719381 2003 A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia.

PMID 20583297 2010 Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.

PMID 16380615 2005 Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.