Structural and functional consequences of non-synonymous SNPs within the LAMA2 protein: a molecular dynamics perspective.

Clinical phenotypic presentations associated with LAMA2 deficiency have shown a variety of manifestations. LAMA2 mutations are mainly linked to congenital muscular dystrophy, but there is also mounting evidence suggesting their presence in inflammatory breast cancer, laryngopharyngeal squamous cell carcinoma, and ventricular tachycardia related to coronary artery disease and cardiomyopathy. This study examined the structural and functional impacts of 144 non-synonymous single nucleotide polymorphisms (nsSNPs) within the LAMA2 gene.

Ion Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE Myopathy.

GNE myopathy, also known as hereditary inclusion body myopathy (HIBM), is a rare genetic muscle disorder marked by a gradual onset of muscle weakness in young adults. GNE myopathy (GNEM) is caused by bi-allelic variants in the UDP--acetylglucosamine 2-epimerase (UDP-GlcNAc 2-epimerase)/-acetylmannosamine kinase (ManNAc kinase) gene (), clinically resulting in the loss of ambulation within 10-20 years from the onset of the initial symptoms. The disease's mechanism is poorly understood and non-invasive biomarkers are lacking, hindering effective therapy development.

WALANT technique for acute compartment syndrome of the arm in a COVID-19 patient: A case report.

Introduction: Compartment syndrome is a surgical emergency caused by elevated pressure within a closed fascial compartment, leading to compromised tissue perfusion and the potential for irreversible damage if not treated promptly. This report presents a rare case of upper limb compartment syndrome in a COVID-19 patient on anticoagulation therapy following multiple failed venipuncture attempts. This work has been reported in line with the SCARE criteria.

Expanding the genetic and clinical spectrum of SLC25A42-associated disorders and testing of pantothenic acid to improve CoA level in vitro.

encodes the mitochondrial coenzyme A (CoA) transporter localized at the inner mitochondrial membrane. SLC25A42 deficiency leads to a congenital disease with a heterogeneous clinical presentation, including myopathy, developmental delay, lactic acidosis, and encephalopathy. Twenty-one patients have been described so far.

c.2011C>T is responsible for congenital scoliosis in a Chinese family.

Neuromuscular scoliosis can be caused by muscular or nervous system dysfunction resulting from genetic variants. Variation in may cause hypertrophic or dilated cardiomyopathy, skeletal myopathies, or a combination of both; however, scoliosis has rarely been reported. We analyzed a Chinese pedigree with two members suffering from scoliosis.

A TPM2 mutation causes congenital myopathy with fibre-type disproportion.

We report a 9-year-old girl with delayed motor milestones and respiratory difficulty since birth. She presented as a floppy infant, with generalised muscle wasting, dysphagia and facial weakness. The muscle biopsy of the biceps brachii revealed congenital fibre-type disproportion (CFTD) and Sanger sequencing detected a pathogenic variant in the beta-tropomyosin (TPM2) gene (c.

Nemaline myopathy with scoliosis: a case report.

Nemaline myopathy (NM) is a rare congenital muscle disease that leads to muscle damage, resulting in muscle weakness and atrophy. Cases of scoliosis induced by muscle weakness and atrophy are exceedingly uncommon. The author clinically treated one patient with NM complicated by scoliosis and analyzed its clinical characteristics through a literature review.

Efficacy of ephedrine treatment in COLQ-related Congenital Myasthenic Syndrome (CMS): longitudinal quantitative assessment in a 71-year-old man.

Introduction And Aims: We describe a case of long-living COLQ-related congenital myasthenic syndrome (CMS) benefitting from ephedrine with an overall improvement quantified with functional measures.

Results: A 71-year-old man was referred with limb-girdle/axial myopathy and fatigability since infancy. In his thirties, a decremental response was observed at 3Hz-nerve stimulation, although testing seronegative for anti-neuromuscular junction antibodies.

Compound heterozygous RYR1-RM mouse model reveals disease pathomechanisms and muscle adaptations to promote postnatal survival.

Pathogenic variants in the type I ryanodine receptor (RYR1) result in a wide range of muscle disorders referred to as RYR1-related myopathies (RYR1-RM). We developed the first RYR1-RM mouse model resulting from co-inheritance of two different RYR1 missense alleles (Ryr1 mice). Ryr1 mice exhibit a severe, early onset myopathy characterized by decreased body/muscle mass, muscle weakness, hypotrophy, reduced RYR1 expression, and unexpectedly, incomplete postnatal lethality with a plateau survival of ~50% at 12 weeks of age.

Familial osteochondrodysplastic and cardiomyopathic syndrome in Chianina cattle.

Background: Skeletal dysplasia encompasses a heterogeneous group of genetic disorders characterized by an abnormal development of bones, joints, and cartilage. Two Chianina half-sibling calves from consanguineous mating with congenital skeletal malformations and cardiac abnormalities were identified.

Hypothesis/objectives: To characterize the disease phenotype, to evaluate its genetic cause, and to determine the prevalence of the deleterious alleles in the Chianina population.

Family Occurrence of an m.3303C>T Point Mutation in the Gene, Which Induces Cardiomyopathy Syndrome with/without Skeletal Muscle Myopathy.

This paper discusses the cases of siblings that were born healthy, then diagnosed in their neonatal periods with cardiomyopathy and/or severe metabolic acidosis, which ran progressive courses and contributed to death in infancy. Molecular testing of the children confirmed the presence of an m.3303C>T point mutation in the mitochondrial DNA in the gene, which was also present in their oligosymptomatic mother and their mother's sister, an asymptomatic carrier.

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.

An increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of manifestations and mutational spectrum is lacking. To address this, we performed detailed analysis of 42 individuals with BCL11A-related IDD (BCL11A-IDD, a.k.

A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG study.

Background: SELENON-related myopathy (SELENON-RM) is a rare congenital myopathy characterized by slowly progressive axial muscle weakness, rigidity of the spine, scoliosis, and respiratory insufficiency. Laminin-a2-related muscular dystrophy (LAMA2-MD) has a similar clinical phenotype, which ranges from severe, early-onset congenital muscular dystrophy type 1A (MDC1A) to milder forms presenting as childhood- or adult-onset limb-girdle type muscular dystrophy. The first 1.

275th ENMC international workshop: Seronegative myasthenia gravis: An update paradigm for diagnosis and management, 9-11 February 2024, Hoofddorp, the Netherlands.

The 275th ENMC workshop on the diagnosis and management of seronegative myasthenia gravis (SNMG) was held on February 9-11, 2024. The participants included experts in the field of adult and pediatric MG together with patient representatives. This workshop aimed to redefine SNMG in view of recent diagnostic and therapeutic updates and to identify patient unmet needs.

Aligning with the 3Rs: alternative models for research into muscle development and inherited myopathies.

Inherited and acquired muscle diseases are an important cause of morbidity and mortality in human medical and veterinary patients. Researchers use models to study skeletal muscle development and pathology, improve our understanding of disease pathogenesis and explore new treatment options. Experiments on laboratory animals, including murine and canine models, have led to huge advances in congenital myopathy and muscular dystrophy research that have translated into clinical treatment trials in human patients with these debilitating and often fatal conditions.

Compound Heterozygous Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive -Related Myopathy.

Pathogenic variants in the ryanodine receptor 1 () gene are causative for a wide spectrum of muscular phenotypes, ranging from malignant hyperthermia over mild, non-progressive to severe congenital myopathy. Both autosomal dominant and recessive inheritance can occur, with the more severe forms usually showing recessive inheritance. However, genotype-phenotype correlations are complicated due to the large size of the gene and heterogeneous phenotypes.

Subjective Valuation of Screening for Spinal Muscular Atrophy and Analysis of its Influencing Factors: Evidence from Iran.

Background: Spinal muscular atrophy is an inherited neurodegenerative disorder that typically leads to severe physical disability. The present study aimed to determine the subjective evaluation of this disorder screening and analyze its influencing factors in Iran.

Methods: A cross-sectional study was performed using data from the second survey of women either pregnant or planning to become pregnant in Tehran, the capital of Iran, in 2022.