Publications by authors named "A Rubegni"
Article Synopsis
- The study focuses on diagnosing myofibrillar myopathies (MFM) and distal myopathies (DM), addressing the complexity due to numerous causative genes and overlapping symptoms.
- It involves a retrospective analysis of data from 132 MFM and 298 DM patients collected from various neuromuscular centers, highlighting demographic, genetic, and clinical details.
- Results indicate that 63% of patients had molecular confirmation of their condition, with significant findings including common pathogenic variants and varying ages of onset, as well as notable cardiac and respiratory complications linked to specific genetic variants.
Objective: To identify novel biomarkers as an alternative diagnostic tool for limb girdle muscular dystrophy (LGMD).
Background: LGMD encompasses a group of muscular dystrophies characterized by proximal muscles weakness, elevated CK levels and dystrophic findings on muscle biopsy. Heterozygous mutations are associated with autosomal dominant LGMD-4, while biallelic mutations can cause autosomal recessive LGMD-1.
Genetic defects in the nuclear encoded subunits and assembly factors of cytochrome c oxidase (mitochondrial complex IV) are very rare and are associated with a wide variety of phenotypes. Biallelic pathogenic variants in the COX11 protein were previously identified in two unrelated children with infantile-onset mitochondrial encephalopathies. Through comprehensive clinical, genetic and functional analyses, here we report on a new patient harboring novel heterozygous variants in , presenting with Leigh-like features, and provide additional experimental evidence for a direct correlation between COX11 protein expression and sensitivity to oxidative stress.
View Article and Find Full Text PDFBackground: Congenital myopathies are a group of clinically, genetically, and histologically heterogeneous diseases caused by mutations in a large group of genes. One of these is , which is recognized as the cause of Dihydropyridine Receptor Congenital Myopathy.
Methods: To better characterize the phenotypic spectrum of myopathy, we conducted a systematic review of cases in the literature through three electronic databases following the PRISMA guidelines.