Matches in SemOpenAlex for { <https://semopenalex.org/work/W3090720462> ?p ?o ?g. }
Showing items 1 to 81 of
81
with 100 items per page.
- W3090720462 endingPage "S103" @default.
- W3090720462 startingPage "S103" @default.
- W3090720462 abstract "Collagen VI related myopathy is one of the more prevalent inherited neuromuscular myopathies. Determining the genetic and clinical features in our population is relevant to improve patients care and develop a platform for collaborative studies and future clinical trials. We describe the phenotype, genotype and muscle MRI (WBMRI) in a series of patients with Collagen VI-Related Myopathy (COLVI-RM). A retrospective study of patients with a genetic diagnosis of Collagen-VI-RM, IRB-approved. Demographic data and patients’ characteristics were obtained from medical records. Eighteen patients (9 families) with COL6 mutation from twenty-one patients suspected of COLVI-RM. 12/6 (female/male), age range 1-54 years and (average: 25 years). All patients present an autosomal dominant COL6-related condition; 4/9 were de novo mutations. 5/9 families carry a COL6A1 mutation, 3/9 families a COL6A3 and one family a COL6A2 mutation. Age of disease onset was before the age of two in 9/18. (motor delay, frequent falls, hip dislocation), followed by neonatal onset (5/18) (hypotonia, congenital torticollis, hip dislocation). A one-year-old patient was diagnosed at pre-symptomatic state. Most patients presented typical COLVI-RM skin lesions (16/18) and distal hyperlaxity. Most showed a slight elevation of total CK (261-500). Muscle biopsies from 9 patients showed a dystrophic pattern in 5, nonspecific myopathic pattern in 4 patients. Seven patients had a WBMRI previous to genetic diagnose; all of them showed the characteristic involvement of muscles described in COLVI-RM. 16/18 patients developed a Bethlem phenotype, maintaining ambulation. Two patients presented an Ullrich dystrophy phenotype and ventilatory failure. COLVI-RM dominant conditions and Bethlem myopathy phenotype are prevalent in our cohort. WBMRI is a useful tool that guides the diagnostic process. The use of NGS helps to shorten the diagnostic odyssey and perform a better clinical follow-up and genetic counselling." @default.
- W3090720462 created "2020-10-08" @default.
- W3090720462 creator A5005372466 @default.
- W3090720462 creator A5035477636 @default.
- W3090720462 creator A5039977253 @default.
- W3090720462 creator A5043338225 @default.
- W3090720462 creator A5046302500 @default.
- W3090720462 creator A5053677600 @default.
- W3090720462 creator A5056239090 @default.
- W3090720462 creator A5058019685 @default.
- W3090720462 creator A5062170515 @default.
- W3090720462 creator A5067896302 @default.
- W3090720462 creator A5076999718 @default.
- W3090720462 creator A5085175000 @default.
- W3090720462 date "2020-10-01" @default.
- W3090720462 modified "2023-10-05" @default.
- W3090720462 title "CONGENITAL MUSCULAR DYSTROPHIES" @default.
- W3090720462 doi "https://doi.org/10.1016/j.nmd.2020.08.195" @default.
- W3090720462 hasPublicationYear "2020" @default.
- W3090720462 type Work @default.
- W3090720462 sameAs 3090720462 @default.
- W3090720462 citedByCount "0" @default.
- W3090720462 crossrefType "journal-article" @default.
- W3090720462 hasAuthorship W3090720462A5005372466 @default.
- W3090720462 hasAuthorship W3090720462A5035477636 @default.
- W3090720462 hasAuthorship W3090720462A5039977253 @default.
- W3090720462 hasAuthorship W3090720462A5043338225 @default.
- W3090720462 hasAuthorship W3090720462A5046302500 @default.
- W3090720462 hasAuthorship W3090720462A5053677600 @default.
- W3090720462 hasAuthorship W3090720462A5056239090 @default.
- W3090720462 hasAuthorship W3090720462A5058019685 @default.
- W3090720462 hasAuthorship W3090720462A5062170515 @default.
- W3090720462 hasAuthorship W3090720462A5067896302 @default.
- W3090720462 hasAuthorship W3090720462A5076999718 @default.
- W3090720462 hasAuthorship W3090720462A5085175000 @default.
- W3090720462 hasConcept C126322002 @default.
- W3090720462 hasConcept C187212893 @default.
- W3090720462 hasConcept C189165786 @default.
- W3090720462 hasConcept C2777300911 @default.
- W3090720462 hasConcept C2778873089 @default.
- W3090720462 hasConcept C2779030066 @default.
- W3090720462 hasConcept C2779546488 @default.
- W3090720462 hasConcept C2779768179 @default.
- W3090720462 hasConcept C2908647359 @default.
- W3090720462 hasConcept C54355233 @default.
- W3090720462 hasConcept C71924100 @default.
- W3090720462 hasConcept C86803240 @default.
- W3090720462 hasConcept C99454951 @default.
- W3090720462 hasConceptScore W3090720462C126322002 @default.
- W3090720462 hasConceptScore W3090720462C187212893 @default.
- W3090720462 hasConceptScore W3090720462C189165786 @default.
- W3090720462 hasConceptScore W3090720462C2777300911 @default.
- W3090720462 hasConceptScore W3090720462C2778873089 @default.
- W3090720462 hasConceptScore W3090720462C2779030066 @default.
- W3090720462 hasConceptScore W3090720462C2779546488 @default.
- W3090720462 hasConceptScore W3090720462C2779768179 @default.
- W3090720462 hasConceptScore W3090720462C2908647359 @default.
- W3090720462 hasConceptScore W3090720462C54355233 @default.
- W3090720462 hasConceptScore W3090720462C71924100 @default.
- W3090720462 hasConceptScore W3090720462C86803240 @default.
- W3090720462 hasConceptScore W3090720462C99454951 @default.
- W3090720462 hasLocation W30907204621 @default.
- W3090720462 hasOpenAccess W3090720462 @default.
- W3090720462 hasPrimaryLocation W30907204621 @default.
- W3090720462 hasRelatedWork W1979969441 @default.
- W3090720462 hasRelatedWork W1992073519 @default.
- W3090720462 hasRelatedWork W2103191440 @default.
- W3090720462 hasRelatedWork W2139199445 @default.
- W3090720462 hasRelatedWork W2143325973 @default.
- W3090720462 hasRelatedWork W2286657805 @default.
- W3090720462 hasRelatedWork W2564992464 @default.
- W3090720462 hasRelatedWork W41059304 @default.
- W3090720462 hasRelatedWork W4292202204 @default.
- W3090720462 hasRelatedWork W58996819 @default.
- W3090720462 hasVolume "30" @default.
- W3090720462 isParatext "false" @default.
- W3090720462 isRetracted "false" @default.
- W3090720462 magId "3090720462" @default.
- W3090720462 workType "article" @default.