FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3209091932> ?p ?o ?g. }

• W3209091932 endingPage "987" @default.
• W3209091932 startingPage "978" @default.
• W3209091932 abstract "Primary mitochondrial myopathies are genetic metabolic disorders of mitochondrial dysfunction affecting mainly, but not exclusively, skeletal muscle. Although individually rare, they are the most common inherited metabolic disorders in childhood. They can be similar to other childhood muscle diseases such as congenital myopathies, dystrophies, myasthenic syndromes or metabolic myopathies and a muscle biopsy and genetic testing are important in the differential diagnosis. Mitochondrial myopathies can present at any age but typically childhood onset myopathies have more significant muscle involvement and are caused by genes encoded in the nuclear DNA. Mitochondrial myopathy in infants presents with hypotonia, muscle weakness and difficulty feeding. In toddlers and older children delayed motor development, exercise intolerance and premature fatigue are common. A number of nuclear DNA and mitochondrial DNA encoded genes are known to cause isolated myopathy in childhood and they are important in a range of mitochondrial functions such as oxidative phosphorylation, mitochondrial transcription/translation and mitochondrial fusion/fission. A rare cause of isolated myopathy in children, reversible infantile respiratory chain deficiency myopathy, is non-progressive and typically associated with spontaneous full recovery. Promising targeted treatments have been reported for a number or mitochondrial myopathies including riboflavin in ACAD9 and ETFDH-myopathies and deoxynucleoside for TK2-related disease." @default.
• W3209091932 created "2021-11-08" @default.
• W3209091932 creator A5036864941 @default.
• W3209091932 creator A5058623427 @default.
• W3209091932 creator A5082885850 @default.
• W3209091932 date "2021-10-01" @default.
• W3209091932 modified "2023-10-18" @default.
• W3209091932 title "Primary mitochondrial myopathies in childhood" @default.
• W3209091932 cites W1983364142 @default.
• W3209091932 cites W1995152144 @default.
• W3209091932 cites W1998607551 @default.
• W3209091932 cites W2012374160 @default.
• W3209091932 cites W2040859316 @default.
• W3209091932 cites W2044311728 @default.
• W3209091932 cites W2049216878 @default.
• W3209091932 cites W2060494021 @default.
• W3209091932 cites W2075627071 @default.
• W3209091932 cites W2076871796 @default.
• W3209091932 cites W2077491834 @default.
• W3209091932 cites W2091685900 @default.
• W3209091932 cites W2091701724 @default.
• W3209091932 cites W2106292732 @default.
• W3209091932 cites W2116248509 @default.
• W3209091932 cites W2123166072 @default.
• W3209091932 cites W2134672579 @default.
• W3209091932 cites W2136695955 @default.
• W3209091932 cites W2144250257 @default.
• W3209091932 cites W2151897301 @default.
• W3209091932 cites W2155875381 @default.
• W3209091932 cites W2158472340 @default.
• W3209091932 cites W2170925477 @default.
• W3209091932 cites W2171556262 @default.
• W3209091932 cites W2272813075 @default.
• W3209091932 cites W2471083081 @default.
• W3209091932 cites W2563377345 @default.
• W3209091932 cites W2587353586 @default.
• W3209091932 cites W2588957050 @default.
• W3209091932 cites W2597654099 @default.
• W3209091932 cites W2735771513 @default.
• W3209091932 cites W2751659465 @default.
• W3209091932 cites W2766936839 @default.
• W3209091932 cites W2776738147 @default.
• W3209091932 cites W2794394392 @default.
• W3209091932 cites W2794794769 @default.
• W3209091932 cites W2803687985 @default.
• W3209091932 cites W2870408976 @default.
• W3209091932 cites W2887644019 @default.
• W3209091932 cites W2895959519 @default.
• W3209091932 cites W2900029109 @default.
• W3209091932 cites W2909772933 @default.
• W3209091932 cites W2914903897 @default.
• W3209091932 cites W2945506324 @default.
• W3209091932 cites W2968878212 @default.
• W3209091932 cites W2971209984 @default.
• W3209091932 cites W2971578544 @default.
• W3209091932 cites W2996395406 @default.
• W3209091932 cites W2999771870 @default.
• W3209091932 cites W3012131919 @default.
• W3209091932 cites W3013061819 @default.
• W3209091932 cites W3016081959 @default.
• W3209091932 cites W3029799892 @default.
• W3209091932 cites W3037046932 @default.
• W3209091932 cites W3042163005 @default.
• W3209091932 cites W3042904458 @default.
• W3209091932 cites W3082382384 @default.
• W3209091932 cites W3088519211 @default.
• W3209091932 cites W3096833132 @default.
• W3209091932 cites W3111956955 @default.
• W3209091932 cites W3115646653 @default.
• W3209091932 cites W3124983620 @default.
• W3209091932 cites W3171783015 @default.
• W3209091932 cites W4210476933 @default.
• W3209091932 cites W816757487 @default.
• W3209091932 doi "https://doi.org/10.1016/j.nmd.2021.08.005" @default.
• W3209091932 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34736635" @default.
• W3209091932 hasPublicationYear "2021" @default.
• W3209091932 type Work @default.
• W3209091932 sameAs 3209091932 @default.
• W3209091932 citedByCount "2" @default.
• W3209091932 countsByYear W32090919322022 @default.
• W3209091932 crossrefType "journal-article" @default.
• W3209091932 hasAuthorship W3209091932A5036864941 @default.
• W3209091932 hasAuthorship W3209091932A5058623427 @default.
• W3209091932 hasAuthorship W3209091932A5082885850 @default.
• W3209091932 hasConcept C104317684 @default.
• W3209091932 hasConcept C126322002 @default.
• W3209091932 hasConcept C142724271 @default.
• W3209091932 hasConcept C24586158 @default.
• W3209091932 hasConcept C2775833069 @default.
• W3209091932 hasConcept C2775934546 @default.
• W3209091932 hasConcept C2777300911 @default.
• W3209091932 hasConcept C2777321227 @default.
• W3209091932 hasConcept C2777614518 @default.
• W3209091932 hasConcept C2778198053 @default.
• W3209091932 hasConcept C2779438767 @default.
• W3209091932 hasConcept C2779546488 @default.
• W3209091932 hasConcept C2779999465 @default.
• W3209091932 hasConcept C28859421 @default.

• next