Two cases of myofibrillar myopathies: genetic and quality of life study

Vista sencilla de ítem
dc.contributor.authorAngelini, Corrado
dc.contributor.authorCeolin,Chiara
dc.contributor.authorRodríguez Bermejo, Alicia Aurora
dc.contributor.authorNigro, Vincenzo
dc.date.accessioned2025-09-18T13:14:45Z
dc.date.available2025-09-18T13:14:45Z
dc.date.issued2023-04-06
dc.date.updated2025-09-18T13:14:45Z
dc.description.abstractWe describe two cases of myofibrillar myopathies, due to different gene mutations. The first was a girl with cardiomyopathy and sensory axonal neuropathy that underwent cardiac transplantation at 15 years and suffers from rotatory scoliosis due to BAG3 mutation. The second is a male patient, with evident limb-girdle weakness since age 3. Two muscle biopsies were performed at ages 3 and 15, with muscle MRI, and LDB3 gene sequence analysis also carried out. Muscle biopsies revealed the presence of dystrophic changes in the first biopsy and myopathic abnormalities in the second, and the MRI images of the lower limbs showed an asymmetrical involvement in the thigh of quadriceps muscles and in the calf of gastrocnemius muscles. The patient was responsive to treatment with an intermittent steroid regimen and muscle-strengthening exercises. Considerations on both muscle–bone interaction and psychological and socioeconomic conditions are carried out for both cases.en
dc.description.sponsorshipName of the project: Identification of new genetic conditions in children with undiagnosed diseases. Telethon Institute of Genetics and Medicine of Pozzuoli (NA). Telethon grant supported NGS analysis at TIGEM in Naplesen
dc.identifier.citationAngelini, C., Ceolin, C., Rodriguez, A. A., & Nigro, V. (2023). Two cases of myofibrillar myopathies: genetic and quality of life Study. Muscles, 2(2), 0. https://doi.org/10.3390/MUSCLES2020013
dc.identifier.doi10.3390/MUSCLES2020013
dc.identifier.eissn2813-0413
dc.identifier.urihttps://hdl.handle.net/20.500.14454/3664
dc.language.isoeng
dc.publisherMultidisciplinary Digital Publishing Institute (MDPI)
dc.rights© 2023 by the authors
dc.subject.otherBAG3 mutation
dc.subject.otherLDB3 gene
dc.subject.otherMyofibrillar myopathies
dc.subject.otherSocioeconomic impact
dc.titleTwo cases of myofibrillar myopathies: genetic and quality of life studyen
dc.typejournal article
dcterms.accessRightsopen access
oaire.citation.endPage
oaire.citation.issue2
oaire.citation.startPage0
oaire.citation.titleMuscles
oaire.citation.volume2
Archivos
Bloque original
Mostrando 1 - 1 de 1
Miniatura
Nombre:
angelini_two_2023.pdf
Tamaño:
727.22 KB
Formato:
Adobe Portable Document Format
Descargar
Colecciones
Artículos