Dysferlinopathy in Chile: Evidence of Two Novel Mutations in the First Reported Cases

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dc.contributor.authorBevilacqua, Jorge A.
dc.contributor.authorKrahn, Martin
dc.contributor.authorPedraza, Luis
dc.contributor.authorGejman, Roger
dc.contributor.authorGonzalez, Sergio
dc.contributor.authorLevy, Nicolas
dc.date.accessioned2024-01-10T13:12:30Z
dc.date.available2024-01-10T13:12:30Z
dc.date.issued2009
dc.description.abstractWe describe two Chilean patients with dysferlinopathy, a 32-year-old man with Miyoshi's distal myopathy and a 29-year-old woman with a proximodistal phenotype. Absence of dysferlin in frozen muscle biopsy allowed diagnostic confirmation. In these two patients, two mutations not previously identified in other populations were found: a homozygous c.1948delC (p. Leu650TyrfsX6) was found in the male patient; the heterozygous mutation c.1276G>A (p.Gly426Arg) was found in the female patient in association with the previously reported c.2858dupT (p.Phe954ValfsX2). To our knowledge, this is the first time that mutations in DYSF are identified in native Chileans. Our findings suggest the possibility that mutations in the DYSF gene were present in the Native American population before colonization.
dc.fechaingreso.objetodigital2024-04-26
dc.format.extent4 páginas
dc.fuente.origenWOS
dc.identifier.doi10.1089/gtmb.2008.0091
dc.identifier.eissn1945-0257
dc.identifier.issn1945-0265
dc.identifier.pubmedidMEDLINE:19309282
dc.identifier.urihttps://doi.org/10.1089/gtmb.2008.0091
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/78194
dc.identifier.wosidWOS:000265065900017
dc.information.autorucMedicina;Gejman R;S/I;900
dc.information.autorucMedicina;González S;S/I;99856
dc.issue.numero1
dc.language.isoen
dc.nota.accesocontenido parcial
dc.pagina.final108
dc.pagina.inicio105
dc.publisherMARY ANN LIEBERT, INC
dc.revistaGENETIC TESTING AND MOLECULAR BIOMARKERS
dc.rightsacceso restringido
dc.subjectMYOPATHY
dc.subjectGENE
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleDysferlinopathy in Chile: Evidence of Two Novel Mutations in the First Reported Cases
dc.typeartículo
dc.volumen13
sipa.codpersvinculados900
sipa.codpersvinculados99856
sipa.indexWOS
sipa.trazabilidadCarga SIPA;09-01-2024
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