📍 @folkhalsanresearch.bsky.social , Helsinki, Finland
https://linktr.ee/myofin
First author Veronica's summary of the article:
"This study examined six individuals from five unrelated families who carried truncating variants in exon 363 of the TTN gene, all presenting with recessive titinopathies." (1/4)
First author Veronica's summary of the article:
"This study examined six individuals from five unrelated families who carried truncating variants in exon 363 of the TTN gene, all presenting with recessive titinopathies." (1/4)
First author Johanna's summary of the article:
"GNE myopathy is a rare autosomal recessive skeletal muscle disorder. It typically starts in the lower legs, gradually progressing to other muscle groups." (1/2)
First author Johanna's summary of the article:
"GNE myopathy is a rare autosomal recessive skeletal muscle disorder. It typically starts in the lower legs, gradually progressing to other muscle groups." (1/2)
First author Veronica's summary of the article:
"The study focused on finding a robust and reproducible method to differentiate the C2C12 murine myoblast into mature and functional myotubes in a 2D culture system." (1/3)
First author Veronica's summary of the article:
"The study focused on finding a robust and reproducible method to differentiate the C2C12 murine myoblast into mature and functional myotubes in a 2D culture system." (1/3)
▫️Maria Francesca Di Feo (MD), Clinical Geneticist & Doctoral Researcher
Maria Francesca (she/her) graduated in Medicine in 2020 from the University of Modena & Reggio Emilia and completed her specialization in Clinical Genetics at the University of Genova in 2025. (1/7)
▫️Maria Francesca Di Feo (MD), Clinical Geneticist & Doctoral Researcher
Maria Francesca (she/her) graduated in Medicine in 2020 from the University of Modena & Reggio Emilia and completed her specialization in Clinical Genetics at the University of Genova in 2025. (1/7)
European Muscle Conference (www.instagram.com/reel/DPTJFxc...)
World Muscle Society Congress (www.instagram.com/reel/DQOT_LV...)
European Muscle Conference (www.instagram.com/reel/DPTJFxc...)
World Muscle Society Congress (www.instagram.com/reel/DQOT_LV...)
Marco’s summary of the article:
”New multicenter MRI study shows that in autosomal dominant titinopathies, Hereditary Myopathy with Early Respiratory Failure involves broad, severe fat replacement (esp. in semitendinosus, gluteus minimus and obturator externus), … (1/2)
Marco’s summary of the article:
”New multicenter MRI study shows that in autosomal dominant titinopathies, Hereditary Myopathy with Early Respiratory Failure involves broad, severe fat replacement (esp. in semitendinosus, gluteus minimus and obturator externus), … (1/2)
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