Patrizia Ciscato

Glycogenin-1 deficiency: a case report and review of the literature

Nicola Molitierno, Daniele Velardo, Giulia Salvucci, Elena Abati et autres

Pathogenic biallelic variants in GYG1 , encoding for glycogenin-1, are associated with polyglucosan bodies myopathy characterized by muscle accumulation of deposits of amylopectin-like polysaccharides (MIM 616199). So far, only few cases (<50) with molecular defects in GYG1 have been reported. The proband …

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MYBPC1-associated congenital myopathy with tremor: further delineation of the clinical and pathological phenotype in the first Italian case

Daniele Velardo, Claudia Alberti, Delia Gagliardi, Roberto Del Bo et autres

The MYBPC1 gene, mapping to chromosome 12q23.2, encodes the slow myosin binding protein-C (sMyBP-C), a sarcomeric accessory protein, expressed mainly in slow skeletal muscle fibers, that aids in the regulation of actomyosin cross-bridges and provides thick filament stability. Biallelic molecular defects in …

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High-plex spatial protein profiling of skeletal muscle biopsies in inflammatory myopathies using the MACSima™ imaging platform: A pilot study

Monica Sciacco, Daniele Velardo, Letizia Bertolasi, Patrizia Ciscato et autres

Inflammatory myopathies represent a heterogeneous group of autoimmune disorders affecting skeletal muscle, with distinct pathological features. While muscle biopsy remains a key diagnostic tool, conventional immunohistochemical approaches are limited in both number of available markers and spatial resolution. To explore the feasibility …

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Expanding the genetic landscape of Dusty Core Disease: new RYR1 variants in Italian patients

Simona Zanotti, Francesca Magri, Sabrina Salani, Laura Napoli et autres

Core myopathies are congenital diseases with clinical, pathological and genetic heterogeneity. Main histological features are fiber "cores" showing a focally reduced oxidative enzyme activity. Dusty Core Disease (DuCD) differs from Central Core Myopathy for the presence of irregular areas, without clear borders …

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A new MYH2 variant in an Italian patient expanding the clinical spectrum of MYH2-related myopathy

Simona Zanotti, Dario Ronchi, Laura Napoli, Michela Ripolone et autres

BACKGROUND: Myosin heavy chain (MyHC)-related congenital myopathies display variable age of onset and clinical manifestations depending on the mutated isoform. Cardiomyopathy, ophthalmoplegia and primarily proximal weakness may be part of the clinical picture. CASE PRESENTATION: A 57-year-old male patient with a history …

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The Role of C/EBP‐Homologous Protein in Idiopathic Inflammatory Myopathies

Monica Sciacco, Patrizia Ciscato, Letizia Bertolasi, Maria Guttuso et autres

The Idiopathic Inflammatory Myopathies (IIMs) are a group of autoimmune disorders characterised by persistent muscle inflammation and diverse clinical manifestations. Common symptoms include muscle weakness, myalgia, and elevated serum creatine kinase levels. Recent findings highlight the relevance of muscle fibre necrosis in …

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137PExpanding the phenotypic spectrum of MYBPC1-associated congenital myopathy with tremor: report of the first Italian case

Martin A. Croce, Martina Rimoldi, Ruting Bo, Patrizia Ciscato et autres

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Age-progressive stratification of Becker muscular dystrophy patients: a focus on muscle biopsy fibrosis, inflammation and capillary network

Simona Zanotti, Patrizia Ciscato, Laura Napoli, Letizia Bertolasi et autres

Skeletal muscle dystrophies comprise a group of inherited disorders characterized by progressive muscle weakness, with Duchenne and Becker muscular dystrophies (DMD/BMD) being among the most severe. These dystrophies are caused by mutations in the dystrophin gene, resulting in muscle cell instability, chronic …

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A novel DNM2 variant associated with centronuclear myopathy: a case report

Martina Rimoldi, Daniele Velardo, Simona Zanotti, Michela Ripolone et autres

DNM2 encodes the dynamin-2 protein, a GTPase involved in clathrin-mediated endocytosis and other membrane trafficking pathways. The dynamin-2 protein is composed of several functional domains, including a GTPase domain, a middle domain, a pleckstrin homology (PH) domain, a GTPase effector domain (GED), …

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Association between ZASP/LDB3 Pro26Ser and Inclusion Body Myopathy

Daniela Piga, Simona Zanotti, Michela Ripolone, Laura Napoli et autres

Inclusion body myositis (IBM) is a slowly progressive disorder belonging to the idiopathic inflammatory myopathies, and it represents the most common adult-onset acquired myopathy. The main clinical features include proximal or distal muscular asymmetric weakness, with major involvement of long finger flexors …

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Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition

Daniela Piga, Martina Rimoldi, Francesca Magri, Simona Zanotti et autres

Background Congenital myopathies are a group of heterogeneous inherited disorders, mainly characterized by early-onset hypotonia and muscle weakness. The spectrum of clinical phenotype can be highly variable, going from very mild to severe presentations. The course also varies broadly resulting in a …

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Case report: A novel patient presenting TRIM32-related limb-girdle muscular dystrophy

Martina Rimoldi, Gloria Romagnoli, Francesca Magri, Sara Antognozzi et autres

Limb-girdle muscular dystrophy autosomal recessive 8 (LGMDR8) is a rare clinical manifestation caused by the presence of biallelic variants in the TRIM32 gene. We present the clinical, molecular, histopathological, and muscle magnetic resonance findings of a novel 63-years-old LGMDR8 patient of Italian …

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