Calpainopathy (limb-girdle muscular dystrophy type R1): clinical features, diagnostic approaches, and biotechnological treatment methods.

Calpainopathy, or limb-girdle muscular dystrophy type R1/2A (LGMDR1/2A), is the most prevalent form of LGMD, comprising about 32% of all cases. The disease is caused by mutations in the gene, leading to dysfunction of the corresponding protein-an enzyme critical for muscle fiber cytoskeleton remodeling and protein signaling regulation through selective proteolysis. Clinical manifestations demonstrate significant phenotypic polymorphisms, ranging from oligosymptomatic forms to severe early-onset cases, with the loss of ambulation occurring 10-25 years after disease onset.

Asymptomatic and oligosymptomatic states of dysferlinopathy.

Dysferlinopathy is a phenotypically heterogeneous, inherited, progressive muscular dystrophy caused by mutations in the gene. Dysferlinopathy is marked by elevated serum creatine kinase (CK) and can in some cases manifest as hyperCKemia in asymptomatic or low-symptom states. Here, we describe the clinical signs and symptoms and laboratory and imaging results with quantitative MRI analysis of eight pediatric patients at asymptomatic and oligosymptomatic states of dysferlinopathy (aged 3-14 years).

Photoinduced cytotoxic activity of a rare ruthenium nitrosyl phenanthroline complex showing NO generation in human cells.

A new nitro-nitrosyl complex [RuNO(Phen)(NO)OH] (1) was synthesized and characterized by X-ray diffraction, where Phen = 1,10-phenanthroline. The complex was crystallized in two different modifications without (1) and with a solvent molecule of DMF (1a). The photolysis process together with the determination of the quantum yield of NO release was investigated in acetonitrile solution using a special flow-through system for the simultaneous registration of infrared (IR) and optical absorption (UV-vis) spectra under irradiation with 450 nm light.

Dual Adeno-Associated Virus 9 with Codon-Optimized DYSF Gene Promotes In Vivo Muscle Regeneration and May Decrease Inflammatory Response in Limb Girdle Muscular Dystrophy Type R2.

Dysferlinopathy treatment is an active area of investigation. Gene therapy is one potential approach. We studied muscle regeneration and inflammatory response after injection of an AAV-9 with a codon-optimized DYSF gene.

Magnetic resonance imaging pattern variability in dysferlinopathy.

Unlabelled: The widespread use of magnetic resonance imaging (MRI) in the diagnosis of myopathies has made it possible to clarify the typical MRI pattern of dysferlinopathy. However, sufficient attention has not been given to the variability of MRI patterns in dysferlinopathy.

Materials And Methods: Twenty-five patients with the clinical manifestations of dysferlinopathy were examined.

Asymmetric Interfaces in Epitaxial Off-Stoichiometric FeSi/Ge/FeSi Hybrid Structures: Effect on Magnetic and Electric Transport Properties.

Three-layer iron-rich FeSi/Ge/FeSi (0.2 < < 0.64) heterostructures on a Si(111) surface with Ge thicknesses of 4 nm and 7 nm were grown by molecular beam epitaxy.

Nitric oxide release and related light-induced cytotoxicity of ruthenium nitrosyls with coordinated nicotinate derivatives.

The synthetic approaches for the preparation of (NO,OH)-(NO,NO)-[RuNO(L)(NO)OH], where L = ethyl nicotinate (I) and methyl nicotinate (II), are reported. The structures of the complexes are characterized by X-ray diffraction and analyzed by Hirshfeld surface analysis. Both compounds show a nitric oxide release reaction under 445 or 532 nm irradiation of dimethyl sulfoxide (DMSO) solutions, which is studied by combined ultraviolet-visible- (UV-vis), infrared- (IR), and electron paramagnetic resonance (EPR) spectroscopy and density functional theory (DFT) calculations.

Glu20Ter Variant in 1f Isoform Causes Limb-Girdle Muscle Dystrophy with Lung Injury.

Plectinopathies are orphan diseases caused by gene mutations. is encoding the protein plectin, playing a role in linking cytoskeleton components in various tissues. In this study, we describe the clinical case of a 26-year-old patient with an early onset plectinopathy variant "limb-girdle muscle dystrophy type 2Q," report histopathological and ultrastructural findings in m.

Serum Cytokine Profile in a Patient Diagnosed with Dysferlinopathy.

Limb-girdle muscular dystrophy type 2 (LGMD2B) is a mild form of dysferlinopathy, characterized by limb weakness and wasting. It is an autosomal recessive disease, with currently 140 mutations in the LGMD2B gene identified. Lack of functional dysferlin inhibits muscle fiber regeneration in voluntary muscles, the main pathological finding in LGMD2B patients.

Corrigendum: Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan.

[This corrects the article on p. 77 in vol. 8, PMID: 28337173.

Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan.

To date, over 30 genes with mutations causing limb-girdle muscle dystrophy have been described. Dysferlinopathies are a form of limb-girdle muscle dystrophy type 2B with an incidence ranging from 1:1,300 to 1:200,000 in different populations. In 1996, Dr.