Abstract:
BACKGROUND:Pathogenic variants in ryanodine receptor 1 (RYR1, MIM# 180901) are the cause of congenital myopathy with fiber-type disproportion, malignant hyperthermia susceptibility type 1, central core disease of muscle, multiminicore disease and other congenital myopathies. METHODS:We present a patient with global developmental delay, hypotonia, myopathy, joint hypermobility, and multiple other systemic complaints that were noted early in life. Later she was found to have multiple bone deformities involving her spine, with severe scoliosis that was corrected surgically. She was also diagnosed with ophthalmoplegia, chronic hypercapnic respiratory failure, and hypertension. At 22 years of age she presented to the genetics clinic with a diagnosis of mitochondrial myopathy and underwent whole exome sequencing (WES). RESULTS:Whole exome sequencing revealed two novel compound heterozygous variants in RYR1 (c.7060_7062del, p.Val2354del and c.4485_4500del, p.Tyr1495X). CONCLUSION:Review of her clinical, pathologic, and genetic findings pointed to a diagnosis of a congenital myopathy with fiber-type disproportion.
journal_name
Mol Genet Genomic Medjournal_title
Molecular genetics & genomic medicineauthors
Blackburn PR,Selcen D,Gass JM,Jackson JL,Macklin S,Cousin MA,Boczek NJ,Klee EW,Dimberg EL,Kennelly KD,Atwal PSdoi
10.1002/mgg3.280subject
Has Abstractpub_date
2017-03-30 00:00:00pages
295-302issue
3issn
2324-9269pii
MGG3280journal_volume
5pub_type
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