Matches in SemOpenAlex for { <https://semopenalex.org/work/W4366998478> ?p ?o ?g. }
Showing items 1 to 87 of
87
with 100 items per page.
- W4366998478 endingPage "37" @default.
- W4366998478 startingPage "34" @default.
- W4366998478 abstract "Lamin A (<i>LMNA</i>)-related congenital muscular dystrophy usually presents with hypotonia and severe axial muscle weakness in early infancy. We report a patient who initially presented with torticollis but was finally diagnosed with <i>LMNA</i>-related congenital muscular dystrophy. A 7-month-old infant presented to the outpatient clinic with a chief complaint of torticollis. During a thorough physical examination, axial muscle weakness and gross motor delay were noted, and she was admitted to the pediatric rehabilitation department for further evaluation. The serum creatine kinase level was elevated, and electromyography demonstrated the possibility of hereditary myopathy or a motor neuron disorder. A gene study was conducted, and it showed a c.745C>T (p.Arg249Trp) mutation in the <i>LMNA</i> gene, which is known to cause congenital muscular dystrophy in rare cases. Since there are few reports describing nerve conduction and electromyography studies in patients with <i>LMNA</i>-related congenital muscular dystrophy, this case is meaningful." @default.
- W4366998478 created "2023-04-27" @default.
- W4366998478 creator A5039811893 @default.
- W4366998478 creator A5062188867 @default.
- W4366998478 creator A5065244906 @default.
- W4366998478 creator A5075703773 @default.
- W4366998478 creator A5077545483 @default.
- W4366998478 date "2023-04-30" @default.
- W4366998478 modified "2023-09-25" @default.
- W4366998478 title "Infantile-Onset LMNA-Related Congenital Muscular Dystrophy Presenting as Torticollis: A Case Report" @default.
- W4366998478 cites W1487741670 @default.
- W4366998478 cites W1965372889 @default.
- W4366998478 cites W1978517724 @default.
- W4366998478 cites W2039369407 @default.
- W4366998478 cites W2041599232 @default.
- W4366998478 cites W2146852283 @default.
- W4366998478 cites W2164867418 @default.
- W4366998478 cites W3152547355 @default.
- W4366998478 doi "https://doi.org/10.18214/jend.2022.00178" @default.
- W4366998478 hasPublicationYear "2023" @default.
- W4366998478 type Work @default.
- W4366998478 citedByCount "0" @default.
- W4366998478 crossrefType "journal-article" @default.
- W4366998478 hasAuthorship W4366998478A5039811893 @default.
- W4366998478 hasAuthorship W4366998478A5062188867 @default.
- W4366998478 hasAuthorship W4366998478A5065244906 @default.
- W4366998478 hasAuthorship W4366998478A5075703773 @default.
- W4366998478 hasAuthorship W4366998478A5077545483 @default.
- W4366998478 hasBestOaLocation W43669984781 @default.
- W4366998478 hasConcept C118552586 @default.
- W4366998478 hasConcept C126322002 @default.
- W4366998478 hasConcept C141071460 @default.
- W4366998478 hasConcept C179093185 @default.
- W4366998478 hasConcept C1862650 @default.
- W4366998478 hasConcept C187212893 @default.
- W4366998478 hasConcept C2775934546 @default.
- W4366998478 hasConcept C2776418732 @default.
- W4366998478 hasConcept C2777300911 @default.
- W4366998478 hasConcept C2777515770 @default.
- W4366998478 hasConcept C2779030066 @default.
- W4366998478 hasConcept C2779438767 @default.
- W4366998478 hasConcept C2779768179 @default.
- W4366998478 hasConcept C2779999465 @default.
- W4366998478 hasConcept C2780654407 @default.
- W4366998478 hasConcept C2780723820 @default.
- W4366998478 hasConcept C2781313278 @default.
- W4366998478 hasConcept C71924100 @default.
- W4366998478 hasConcept C99508421 @default.
- W4366998478 hasConceptScore W4366998478C118552586 @default.
- W4366998478 hasConceptScore W4366998478C126322002 @default.
- W4366998478 hasConceptScore W4366998478C141071460 @default.
- W4366998478 hasConceptScore W4366998478C179093185 @default.
- W4366998478 hasConceptScore W4366998478C1862650 @default.
- W4366998478 hasConceptScore W4366998478C187212893 @default.
- W4366998478 hasConceptScore W4366998478C2775934546 @default.
- W4366998478 hasConceptScore W4366998478C2776418732 @default.
- W4366998478 hasConceptScore W4366998478C2777300911 @default.
- W4366998478 hasConceptScore W4366998478C2777515770 @default.
- W4366998478 hasConceptScore W4366998478C2779030066 @default.
- W4366998478 hasConceptScore W4366998478C2779438767 @default.
- W4366998478 hasConceptScore W4366998478C2779768179 @default.
- W4366998478 hasConceptScore W4366998478C2779999465 @default.
- W4366998478 hasConceptScore W4366998478C2780654407 @default.
- W4366998478 hasConceptScore W4366998478C2780723820 @default.
- W4366998478 hasConceptScore W4366998478C2781313278 @default.
- W4366998478 hasConceptScore W4366998478C71924100 @default.
- W4366998478 hasConceptScore W4366998478C99508421 @default.
- W4366998478 hasIssue "1" @default.
- W4366998478 hasLocation W43669984781 @default.
- W4366998478 hasOpenAccess W4366998478 @default.
- W4366998478 hasPrimaryLocation W43669984781 @default.
- W4366998478 hasRelatedWork W2030992444 @default.
- W4366998478 hasRelatedWork W2110751608 @default.
- W4366998478 hasRelatedWork W2163557535 @default.
- W4366998478 hasRelatedWork W2193225435 @default.
- W4366998478 hasRelatedWork W2415510118 @default.
- W4366998478 hasRelatedWork W2516698337 @default.
- W4366998478 hasRelatedWork W2552174596 @default.
- W4366998478 hasRelatedWork W2914828501 @default.
- W4366998478 hasRelatedWork W4366998478 @default.
- W4366998478 hasRelatedWork W66517142 @default.
- W4366998478 hasVolume "25" @default.
- W4366998478 isParatext "false" @default.
- W4366998478 isRetracted "false" @default.
- W4366998478 workType "article" @default.