{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Janßen S"],"funding":["Deutsche Forschungsgemeinschaft","Dr. Georg E. und Marianne Kosing-Stiftung"],"pagination":["10867"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11477233"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["25(19)"],"pubmed_abstract":["Pathogenic variants in the ryanodine receptor 1 (<i>RYR1</i>) gene are causative for a wide spectrum of muscular phenotypes, ranging from malignant hyperthermia over mild, non-progressive to severe congenital myopathy. Both autosomal dominant and recessive inheritance can occur, with the more severe forms usually showing recessive inheritance. However, genotype-phenotype correlations are complicated due to the large size of the gene and heterogeneous phenotypes. We present a 6-year-old patient with severe congenital myopathy, carrying a heterozygous pathogenic <i>RYR1</i> variant inherited from the healthy mother. Through whole genome sequencing we identified a second, deep intronic <i>RYR1</i> variant that has recently been described in another patient with severe congenital myopathy and "],"journal":["International journal of molecular sciences"],"pubmed_title":["Compound Heterozygous &lt;i&gt;RYR1&lt;/i&gt; Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive &lt;i&gt;RYR1&lt;/i&gt;-Related Myopathy."],"pmcid":["PMC11477233"],"funding_grant_id":["no number"],"pubmed_authors":["Doring K","Lubieniecka JM","Lubieniecki KP","Hoffjan S","Lucke T","Nguyen HHP","Kneifel M","Guttsches AK","Casadei N","Gerding WM","Janßen S","Vorgerd M","Kohler C","Erbe LS","Heyer C"],"additional_accession":[]},"is_claimable":false,"name":"Compound Heterozygous &lt;i&gt;RYR1&lt;/i&gt; Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive &lt;i&gt;RYR1&lt;/i&gt;-Related Myopathy.","description":"Pathogenic variants in the ryanodine receptor 1 (<i>RYR1</i>) gene are causative for a wide spectrum of muscular phenotypes, ranging from malignant hyperthermia over mild, non-progressive to severe congenital myopathy. Both autosomal dominant and recessive inheritance can occur, with the more severe forms usually showing recessive inheritance. However, genotype-phenotype correlations are complicated due to the large size of the gene and heterogeneous phenotypes. We present a 6-year-old patient with severe congenital myopathy, carrying a heterozygous pathogenic <i>RYR1</i> variant inherited from the healthy mother. Through whole genome sequencing we identified a second, deep intronic <i>RYR1</i> variant that has recently been described in another patient with severe congenital myopathy and ","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Oct","modification":"2025-04-04T13:53:58.208Z","creation":"2025-04-04T13:53:58.208Z"},"accession":"S-EPMC11477233","cross_references":{"pubmed":["39409197"],"doi":["10.3390/ijms251910867"]}}