Matches in SemOpenAlex for { <https://semopenalex.org/work/W4313305039> ?p ?o ?g. }
- W4313305039 endingPage "277" @default.
- W4313305039 startingPage "271" @default.
- W4313305039 abstract "We here present the case of a patient with a congenital myasthenic syndrome (CMS) due to pathogenic variants in the RAPSN gene. During childhood he experienced recurrent episodes of respiratory failure during respiratory infections. This and other cases were reported as isolated dystrophy of the diaphragmatic musculature. In adulthood, whole exome sequencing revealed two heterozygous pathogenic variants in the RAPSN gene. This led to the revision of the diagnosis to rapsyn CMS11 (OMIM:616326, MONDO:0014588). EMG, muscle ultrasound and the revision of muscle biopsies taken in childhood support this diagnosis. After the revision of the diagnosis, treatment with pyridostigmine was started. This resulted in a reduction of fatigability and an improvement in functional abilities and quality of life." @default.
- W4313305039 created "2023-01-06" @default.
- W4313305039 creator A5003828018 @default.
- W4313305039 creator A5012105654 @default.
- W4313305039 creator A5017437322 @default.
- W4313305039 creator A5017843058 @default.
- W4313305039 creator A5022907050 @default.
- W4313305039 creator A5040088644 @default.
- W4313305039 creator A5041696039 @default.
- W4313305039 creator A5044958461 @default.
- W4313305039 creator A5057324753 @default.
- W4313305039 creator A5074725845 @default.
- W4313305039 creator A5087332579 @default.
- W4313305039 date "2023-03-07" @default.
- W4313305039 modified "2023-09-26" @default.
- W4313305039 title "Dystrophic Myopathy of the Diaphragm with Recurrent Severe Respiratory Failure is Congenital Myasthenic Syndrome 11" @default.
- W4313305039 cites W1964116338 @default.
- W4313305039 cites W1967473203 @default.
- W4313305039 cites W2001282076 @default.
- W4313305039 cites W2005312661 @default.
- W4313305039 cites W2006923461 @default.
- W4313305039 cites W2023200359 @default.
- W4313305039 cites W2023379992 @default.
- W4313305039 cites W2024473147 @default.
- W4313305039 cites W2051978340 @default.
- W4313305039 cites W2052655067 @default.
- W4313305039 cites W2059600528 @default.
- W4313305039 cites W2065172340 @default.
- W4313305039 cites W2071866359 @default.
- W4313305039 cites W2094738786 @default.
- W4313305039 cites W2098490349 @default.
- W4313305039 cites W2100721940 @default.
- W4313305039 cites W2112937983 @default.
- W4313305039 cites W2129704276 @default.
- W4313305039 cites W2142735986 @default.
- W4313305039 cites W2152935078 @default.
- W4313305039 cites W2164592902 @default.
- W4313305039 cites W2181548773 @default.
- W4313305039 cites W2289208199 @default.
- W4313305039 cites W2315635571 @default.
- W4313305039 cites W2417338079 @default.
- W4313305039 cites W2578703644 @default.
- W4313305039 cites W2606140605 @default.
- W4313305039 cites W2766252514 @default.
- W4313305039 cites W2935403869 @default.
- W4313305039 cites W2945797596 @default.
- W4313305039 cites W2975755143 @default.
- W4313305039 cites W3019111138 @default.
- W4313305039 cites W3202449123 @default.
- W4313305039 doi "https://doi.org/10.3233/jnd-221542" @default.
- W4313305039 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36591657" @default.
- W4313305039 hasPublicationYear "2023" @default.
- W4313305039 type Work @default.
- W4313305039 citedByCount "0" @default.
- W4313305039 crossrefType "journal-article" @default.
- W4313305039 hasAuthorship W4313305039A5003828018 @default.
- W4313305039 hasAuthorship W4313305039A5012105654 @default.
- W4313305039 hasAuthorship W4313305039A5017437322 @default.
- W4313305039 hasAuthorship W4313305039A5017843058 @default.
- W4313305039 hasAuthorship W4313305039A5022907050 @default.
- W4313305039 hasAuthorship W4313305039A5040088644 @default.
- W4313305039 hasAuthorship W4313305039A5041696039 @default.
- W4313305039 hasAuthorship W4313305039A5044958461 @default.
- W4313305039 hasAuthorship W4313305039A5057324753 @default.
- W4313305039 hasAuthorship W4313305039A5074725845 @default.
- W4313305039 hasAuthorship W4313305039A5087332579 @default.
- W4313305039 hasBestOaLocation W43133050391 @default.
- W4313305039 hasConcept C104317684 @default.
- W4313305039 hasConcept C121332964 @default.
- W4313305039 hasConcept C126322002 @default.
- W4313305039 hasConcept C157138929 @default.
- W4313305039 hasConcept C164292776 @default.
- W4313305039 hasConcept C16671776 @default.
- W4313305039 hasConcept C170493617 @default.
- W4313305039 hasConcept C187212893 @default.
- W4313305039 hasConcept C24890656 @default.
- W4313305039 hasConcept C2775934546 @default.
- W4313305039 hasConcept C2776888751 @default.
- W4313305039 hasConcept C2777210258 @default.
- W4313305039 hasConcept C2777300911 @default.
- W4313305039 hasConcept C2779030066 @default.
- W4313305039 hasConcept C2779438767 @default.
- W4313305039 hasConcept C2779999465 @default.
- W4313305039 hasConcept C501734568 @default.
- W4313305039 hasConcept C534529494 @default.
- W4313305039 hasConcept C54355233 @default.
- W4313305039 hasConcept C71924100 @default.
- W4313305039 hasConcept C80161118 @default.
- W4313305039 hasConcept C86803240 @default.
- W4313305039 hasConceptScore W4313305039C104317684 @default.
- W4313305039 hasConceptScore W4313305039C121332964 @default.
- W4313305039 hasConceptScore W4313305039C126322002 @default.
- W4313305039 hasConceptScore W4313305039C157138929 @default.
- W4313305039 hasConceptScore W4313305039C164292776 @default.
- W4313305039 hasConceptScore W4313305039C16671776 @default.
- W4313305039 hasConceptScore W4313305039C170493617 @default.
- W4313305039 hasConceptScore W4313305039C187212893 @default.
- W4313305039 hasConceptScore W4313305039C24890656 @default.