FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2038437129> ?p ?o ?g. }

• W2038437129 abstract "To describe an unusual clinical phenotype in an adult harboring 2 compound heterozygous polymerase γ (POLG) mutations.Case report.University-based outpatient neurology clinic and pathology and genetics laboratory.A 27-year-old man presenting with isolated distal myopathy of the upper extremities in the absence of sensory disturbances.Histochemical analysis of a muscle biopsy specimen showed numerous cytochrome c oxidase-deficient fibers. Molecular analysis revealed marked depletion of muscle mitochondrial DNA in the absence of multiple mitochondrial DNA deletions. Sequence analysis of the POLG gene revealed heterozygous sequence variants in compound c.1156C>T (p.R386C) and c.2794C>T (p.H932Y) segregating with clinical disease in the family. The p.R386C change appears to be a novel mutation.Our case broadens the phenotypic spectrum of disorders associated with POLG mutations and highlights the complex relationship between genotype and phenotype in POLG-related disease." @default.
• W2038437129 created "2016-06-24" @default.
• W2038437129 creator A5003172727 @default.
• W2038437129 creator A5018057407 @default.
• W2038437129 creator A5031384055 @default.
• W2038437129 creator A5039285690 @default.
• W2038437129 creator A5043582071 @default.
• W2038437129 creator A5057472776 @default.
• W2038437129 creator A5070800095 @default.
• W2038437129 creator A5082587332 @default.
• W2038437129 creator A5089098601 @default.
• W2038437129 date "2010-09-01" @default.
• W2038437129 modified "2023-09-27" @default.
• W2038437129 title "Isolated Distal Myopathy of the Upper Limbs Associated With Mitochondrial DNA Depletion and Polymerase γ Mutations" @default.
• W2038437129 cites W1992805337 @default.
• W2038437129 cites W2022731255 @default.
• W2038437129 cites W2050775909 @default.
• W2038437129 cites W2050868298 @default.
• W2038437129 cites W2053244885 @default.
• W2038437129 cites W2062485611 @default.
• W2038437129 cites W2102112598 @default.
• W2038437129 cites W2102947959 @default.
• W2038437129 cites W2105911051 @default.
• W2038437129 cites W2144790993 @default.
• W2038437129 cites W2155932533 @default.
• W2038437129 doi "https://doi.org/10.1001/archneurol.2010.200" @default.
• W2038437129 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20837862" @default.
• W2038437129 hasPublicationYear "2010" @default.
• W2038437129 type Work @default.
• W2038437129 sameAs 2038437129 @default.
• W2038437129 citedByCount "19" @default.
• W2038437129 countsByYear W20384371292012 @default.
• W2038437129 countsByYear W20384371292013 @default.
• W2038437129 countsByYear W20384371292014 @default.
• W2038437129 countsByYear W20384371292017 @default.
• W2038437129 countsByYear W20384371292018 @default.
• W2038437129 countsByYear W20384371292019 @default.
• W2038437129 countsByYear W20384371292020 @default.
• W2038437129 countsByYear W20384371292021 @default.
• W2038437129 crossrefType "journal-article" @default.
• W2038437129 hasAuthorship W2038437129A5003172727 @default.
• W2038437129 hasAuthorship W2038437129A5018057407 @default.
• W2038437129 hasAuthorship W2038437129A5031384055 @default.
• W2038437129 hasAuthorship W2038437129A5039285690 @default.
• W2038437129 hasAuthorship W2038437129A5043582071 @default.
• W2038437129 hasAuthorship W2038437129A5057472776 @default.
• W2038437129 hasAuthorship W2038437129A5070800095 @default.
• W2038437129 hasAuthorship W2038437129A5082587332 @default.
• W2038437129 hasAuthorship W2038437129A5089098601 @default.
• W2038437129 hasBestOaLocation W20384371291 @default.
• W2038437129 hasConcept C104317684 @default.
• W2038437129 hasConcept C12125453 @default.
• W2038437129 hasConcept C123249941 @default.
• W2038437129 hasConcept C127716648 @default.
• W2038437129 hasConcept C135763542 @default.
• W2038437129 hasConcept C142724271 @default.
• W2038437129 hasConcept C153911025 @default.
• W2038437129 hasConcept C200844832 @default.
• W2038437129 hasConcept C24586158 @default.
• W2038437129 hasConcept C2775833069 @default.
• W2038437129 hasConcept C2775934546 @default.
• W2038437129 hasConcept C2777300911 @default.
• W2038437129 hasConcept C2777614518 @default.
• W2038437129 hasConcept C2779999465 @default.
• W2038437129 hasConcept C28859421 @default.
• W2038437129 hasConcept C49105822 @default.
• W2038437129 hasConcept C501734568 @default.
• W2038437129 hasConcept C54355233 @default.
• W2038437129 hasConcept C71924100 @default.
• W2038437129 hasConcept C82381507 @default.
• W2038437129 hasConcept C86803240 @default.
• W2038437129 hasConceptScore W2038437129C104317684 @default.
• W2038437129 hasConceptScore W2038437129C12125453 @default.
• W2038437129 hasConceptScore W2038437129C123249941 @default.
• W2038437129 hasConceptScore W2038437129C127716648 @default.
• W2038437129 hasConceptScore W2038437129C135763542 @default.
• W2038437129 hasConceptScore W2038437129C142724271 @default.
• W2038437129 hasConceptScore W2038437129C153911025 @default.
• W2038437129 hasConceptScore W2038437129C200844832 @default.
• W2038437129 hasConceptScore W2038437129C24586158 @default.
• W2038437129 hasConceptScore W2038437129C2775833069 @default.
• W2038437129 hasConceptScore W2038437129C2775934546 @default.
• W2038437129 hasConceptScore W2038437129C2777300911 @default.
• W2038437129 hasConceptScore W2038437129C2777614518 @default.
• W2038437129 hasConceptScore W2038437129C2779999465 @default.
• W2038437129 hasConceptScore W2038437129C28859421 @default.
• W2038437129 hasConceptScore W2038437129C49105822 @default.
• W2038437129 hasConceptScore W2038437129C501734568 @default.
• W2038437129 hasConceptScore W2038437129C54355233 @default.
• W2038437129 hasConceptScore W2038437129C71924100 @default.
• W2038437129 hasConceptScore W2038437129C82381507 @default.
• W2038437129 hasConceptScore W2038437129C86803240 @default.
• W2038437129 hasIssue "9" @default.
• W2038437129 hasLocation W20384371291 @default.
• W2038437129 hasLocation W20384371292 @default.
• W2038437129 hasOpenAccess W2038437129 @default.
• W2038437129 hasPrimaryLocation W20384371291 @default.
• W2038437129 hasRelatedWork W2038437129 @default.
• W2038437129 hasRelatedWork W2047223095 @default.
• W2038437129 hasRelatedWork W2059073122 @default.

• next