… , Maria Francesca held a presentation on titinopathies and Per-Harald (PH) attended a panel discussion on science and media. (2/3)

🚨Publication alert!🚨

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)

She is currently a PhD student in Clinical Research (University of Helsinki) and Pediatric Sciences (University of Genova). Her research focuses on titinopathies and, more broadly, on unsolved myopathy cases, novel gene discovery, and genotype–phenotype correlations. (3/7)

🚨Publication alert!🚨

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)

"Overall, the findings broaden the known clinical and genetic landscape of titinopathies, highlighting the disease relevance of exon 363." (4/4)

New research calls for a standardized approach to #TTN variant interpretation and deeper investigation into missing heritability in individuals with heterozygous TTNtv. bit.ly/4qgLW5k #titinopathies #cardiomyopathies #neuromusculardisorders

Bjarne and Marco have received funding for the final year of their 3-year grant. Marco shares what the grant will be used for 👇:

“Titinopathies and other rimmed vacuolar myopathies (RVMs) are rare muscle disorders caused by genetic mutations affecting muscle structure and function. (4/6)

Check out this video where Senior Scientist Peter Hackman talks about the discovery of the first TTN gene mutation in 2002, how today’s families benefit from dramatic advances in genetic testing, and hope for future treatments for titinopathies.
@myofinlab.bsky.social
www.youtube.com/watch?v=YC5S...

Phenotype-specific muscle proteomic profiling in titinopathies link.springer.com/article/10.1... #hvhebron #neuro [Text complet]

Different Lower Limb Muscle MRI Patterns in Autosomal Dominant Titinopathies scientiasalut.gencat.cat/handle/11351... #ScientiaVH

Different Lower Limb Muscle MRI Patterns in Autosomal Dominant Titinopathies onlinelibrary.wiley.com/action/showC... #hvhebron #neuro [Text complet]

Congenital Titinopathies Linked to Mutations in TTN Metatranscript-Only Exons scientiasalut.gencat.cat/handle/11351... #ScientiaVH

Congenital Titinopathies Linked to Mutations in TTN Metatranscript-Only Exons www.mdpi.com/1422-0067/25... #hvhebron #neuro [Text complet]