Matches in SemOpenAlex for { <https://semopenalex.org/work/W2753152893> ?p ?o ?g. }
Showing items 1 to 81 of
81
with 100 items per page.
- W2753152893 endingPage "e236" @default.
- W2753152893 startingPage "e236" @default.
- W2753152893 abstract "Introduction: Nemaline myopathy (NM) is a heterogeneous muscular congenital myopathy that is slowly progressive or non-progressive. Case report: Our patient was born at 41+6 weeks of gestation, following an uneventful pregnancy .On day four, she presented with weight loss of >10% and hypotonia. The results of the investigations were all normal: investigations included creatine kinase, plasma amino-acids, ammonia level, acylcarnitine profile, lactate and blood gases. Brain magnetic resonance imaging at 3 months of age was normal. Genetic screening for Spinal muscular atrophy (SMA1), myotonic dystrophy (DM1), congenital myasthenic syndrome and Prader-Willi syndrome were all negative. Her echocardiography was normal. Electromyography and nerve conduction studies of the biceps and rectus femoris showed normal sensory responses and there was polyphasic motor units of low amplitude and short duration in the biceps and rectus femoris. The findings suggested a primary muscular disorder of unknown origin. Her skeletal muscle biopsy from right quadriceps which was done at the age of one year showed “thread like” inclusions seen both on light and electron microscopy confirming the diagnosis of NM. The histology also showed normal mitochondria in placement, number and morphologic structure. In addition it showed a moderately low enzyme level of complex I. Mitochondrial whole genome sequencing using the patients skeletal muscle-derived DNA sample detected a known pathogenic mutation, m4298 G>A, at a very low level of heteroplasmy (approximately 10%) in the MTTI (mt-tRNA) gene. The subsequent genetic testing for the most frequent genetic variants associated with nemaline myopathy showed heterozygosity for ACTA1 c.760A > C p.(Asn 254 His). The ACTA1 sequence variant has not been previously reported in the literature. Further assessment of her skeletal muscle biopsy using a quadruple immune-histochemical assay indicated normal levels of both NDUFB8 and COX1 immuno expression. Conclusion: We are describing a severe neonatal onset phenotype of genetically confirmed congenital NM." @default.
- W2753152893 created "2017-09-15" @default.
- W2753152893 creator A5012364817 @default.
- W2753152893 creator A5052058653 @default.
- W2753152893 creator A5052192204 @default.
- W2753152893 creator A5058530290 @default.
- W2753152893 creator A5078872294 @default.
- W2753152893 date "2017-06-01" @default.
- W2753152893 modified "2023-09-26" @default.
- W2753152893 title "Nemaline myopathy and secondary mitochondrial dysfunction of complex I" @default.
- W2753152893 doi "https://doi.org/10.1016/j.ejpn.2017.04.1265" @default.
- W2753152893 hasPublicationYear "2017" @default.
- W2753152893 type Work @default.
- W2753152893 sameAs 2753152893 @default.
- W2753152893 citedByCount "0" @default.
- W2753152893 crossrefType "journal-article" @default.
- W2753152893 hasAuthorship W2753152893A5012364817 @default.
- W2753152893 hasAuthorship W2753152893A5052058653 @default.
- W2753152893 hasAuthorship W2753152893A5052192204 @default.
- W2753152893 hasAuthorship W2753152893A5058530290 @default.
- W2753152893 hasAuthorship W2753152893A5078872294 @default.
- W2753152893 hasConcept C104317684 @default.
- W2753152893 hasConcept C105702510 @default.
- W2753152893 hasConcept C126322002 @default.
- W2753152893 hasConcept C142724271 @default.
- W2753152893 hasConcept C181561989 @default.
- W2753152893 hasConcept C207200792 @default.
- W2753152893 hasConcept C24586158 @default.
- W2753152893 hasConcept C2775934546 @default.
- W2753152893 hasConcept C2777300911 @default.
- W2753152893 hasConcept C2779438767 @default.
- W2753152893 hasConcept C2779621917 @default.
- W2753152893 hasConcept C2779999465 @default.
- W2753152893 hasConcept C2781425419 @default.
- W2753152893 hasConcept C36880943 @default.
- W2753152893 hasConcept C54355233 @default.
- W2753152893 hasConcept C68731436 @default.
- W2753152893 hasConcept C71924100 @default.
- W2753152893 hasConcept C83323008 @default.
- W2753152893 hasConcept C86803240 @default.
- W2753152893 hasConcept C90671521 @default.
- W2753152893 hasConceptScore W2753152893C104317684 @default.
- W2753152893 hasConceptScore W2753152893C105702510 @default.
- W2753152893 hasConceptScore W2753152893C126322002 @default.
- W2753152893 hasConceptScore W2753152893C142724271 @default.
- W2753152893 hasConceptScore W2753152893C181561989 @default.
- W2753152893 hasConceptScore W2753152893C207200792 @default.
- W2753152893 hasConceptScore W2753152893C24586158 @default.
- W2753152893 hasConceptScore W2753152893C2775934546 @default.
- W2753152893 hasConceptScore W2753152893C2777300911 @default.
- W2753152893 hasConceptScore W2753152893C2779438767 @default.
- W2753152893 hasConceptScore W2753152893C2779621917 @default.
- W2753152893 hasConceptScore W2753152893C2779999465 @default.
- W2753152893 hasConceptScore W2753152893C2781425419 @default.
- W2753152893 hasConceptScore W2753152893C36880943 @default.
- W2753152893 hasConceptScore W2753152893C54355233 @default.
- W2753152893 hasConceptScore W2753152893C68731436 @default.
- W2753152893 hasConceptScore W2753152893C71924100 @default.
- W2753152893 hasConceptScore W2753152893C83323008 @default.
- W2753152893 hasConceptScore W2753152893C86803240 @default.
- W2753152893 hasConceptScore W2753152893C90671521 @default.
- W2753152893 hasLocation W27531528931 @default.
- W2753152893 hasOpenAccess W2753152893 @default.
- W2753152893 hasPrimaryLocation W27531528931 @default.
- W2753152893 hasRelatedWork W1838717778 @default.
- W2753152893 hasRelatedWork W1874038040 @default.
- W2753152893 hasRelatedWork W1982704783 @default.
- W2753152893 hasRelatedWork W2071549612 @default.
- W2753152893 hasRelatedWork W2146735843 @default.
- W2753152893 hasRelatedWork W2292270453 @default.
- W2753152893 hasRelatedWork W2293646495 @default.
- W2753152893 hasRelatedWork W3159124985 @default.
- W2753152893 hasRelatedWork W1753940646 @default.
- W2753152893 hasRelatedWork W2111141163 @default.
- W2753152893 hasVolume "21" @default.
- W2753152893 isParatext "false" @default.
- W2753152893 isRetracted "false" @default.
- W2753152893 magId "2753152893" @default.
- W2753152893 workType "article" @default.