Capece et al. provide a systematic clinical characterization of one of the largest cohorts of individuals with PIEZO2-related disorders. Their findings dis

Background Missense variants in TTN pose a major challenge in genetic diagnostics due to their high frequency in the general population, the large size of the gene, and the complex multidomain archite...

Research group leader Marco Savarese enjoys his work and doesn’t go to sleep unless his inbox is empty. In the future, he hopes to see greater trust in science, a positive attitude toward new discover...

Titin, the largest protein in the human body, has been associated with several disease phenotypes caused by variants in the TTN gene. With around 20% …

Background Variants in CASQ1, encoding a calcium-binding protein in the fast-twitch fibers of skeletal muscle, cause sarcoplasmic reticulum aberrations such as large vacuoles with CASQ1 inclusions or,...

Abstract. The small heat shock protein HSPB6 (a.k.a. Hsp20) is highly expressed in striated and smooth muscles. It modulates the oligomerization of its par

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In six patients from five families, we identified two novel exon 363 pathogenic variants causing recessive titinopathies. Patients with a recurrent Eastern European founder variant presented with juv....

Biallelic variants in the GNE gene, which encodes UDP-N-Acetylglucosamine 2-epimerase/N-Acetylmannosamine Kinase, cause an autosomal recessive GNE myopathy (GNEM), characterized by progressive muscle ...

Optimizing in vitro differentiation protocols for skeletal muscle cells is essential for producing mature, functional myotubes suitable for disease modeling and therapeutic screening. While C2C12 muri...

Background and Purpose Titin is critical for sarcomere structure and function, and mutations in this gene cause titinopathies, a group of neuromuscular disorders. Muscle MRI is a key tool for diagno.....