Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like Features.

Skipping the Biopsy: Real-World Experience of Whole-Exome Sequencing as First-Tier Testing in Pediatric Muscular Disorders.

Anaesthethic management on a pediatric patient with Sengers syndrome. Case report.

[Analysis of genetic variant and phenotype of a child with Chanarin-Dorfman syndrome].

Cosegregation of congenital dysferlinopathy phenotype and marinesco-sjögren syndrome: a case report with literature review.

The Clinical, Histological, and Genetic Spectrum of RYR1 Variants-A Multi-Center Israeli Cohort Study.

Congenital core myopathy linked to SOX5: Expanding the phenotypical spectrum of Lamb-Shaffer syndrome.

Wernicke Encephalopathy Associated with Malabsorption in Degos Disease.

Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data.

MSTO1-related mitochondrial myopathy and ataxia syndrome: Case series and literature review.

GNE-related thrombocytopenia (Thrombocytopenia-12) in a 3-month-old from a Middle Eastern background infant: a case report.

Pulled-in-two syndrome in a young woman with restrictive strabismus and rare genetic mutation.

Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey.

Progressive ossification in an adolescent with fibrodysplasia ossificans progressiva.

Pregnancy outcomes in idiopathic inflammatory myopathies: a Portuguese multicentre study.

[Functional analysis of the mutant channels associated with skeletal muscle channelopathies].

Marinesco-Sjögren Syndrome: A Novel SIL1 Variant with In Silico Analysis and Review of the Literature.

Carrier screening for multiple complex monogenic diseases using long-read sequencing: a population-based study of premarital couples in Shanghai.

P18 ZMPSTE24 variant with the lethal phenotype of restrictive dermopathy.

Novel muscle MRI features in Desmin related myasthenic myopathy.

Functional analysis across model systems implicates ribosomal proteins in growth and proliferation defects associated with hypoplastic left heart syndrome.

STIM1 Reduction Prevents Tubular Aggregate Formation and Compromises Muscle Performance in Ageing Mice.

Systematic Phenotyping and Molecular Analysis of the Woozy Mouse: A Preclinical Model of Cerebellar Ataxia.

Perioperative Management of a Patient With Very Long Chain Acyl-CoA Dehydrogenase Deficiency Undergoing Laparoscopic Sleeve Gastrectomy: First Report of Bariatric Surgery in VLCADD.

Congenital adrenal hypoplasia with neurodevelopmental delay due to contiguous Xp21 deletion: a case series with review of literature.

Postoperative rehabilitation in a patient with Proteus syndrome following scoliosis surgery: A case report.

Cone repair and right ventricular resection in an adult patient with Ebstein's anomaly.

Prevalence and Geographical Distribution of Patients With Congenital Myasthenic Syndromes in the United Kingdom.

Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants.

The herculean illusion: congenital hypothyroidism masquerading as muscular dystrophy.

The Neuromuscular Junction: A Shared Vulnerability in Aging and Disease.

Clinical and Genetic Insights into Congenital Generalized Lipodystrophy Type 4: A Case Report.

Long-Chain Fatty Acid Beta-Oxidation Defects: A Case Series and Literature Review.

Severe neonatal presentation of Xp21 contiguous gene deletion: adrenal crisis and neuromuscular involvement.

Barth syndrome: Natural history in infants and young children.

Imaging of Congenital and Developmental Conditions of the Temporomandibular Joint.

Expert Consensus on Genetic Diagnostic Approaches for Patients With Limb-Girdle Muscular Dystrophy.

Myocardial reprogramming by HMGN1 underlies heart defects in trisomy 21.

Diagnosis of MG and differential diagnoses.

Detecting mitochondrial electron transport chain enzyme defects in low-heteroplasmy single large-scale mtDNA deletion syndromes (SLSMDSs).

The spectrum of neuromuscular diseases with tubular aggregates.

Limb-Girdle Muscular Dystrophies.

[Neuromuscular diseases in pediatrics with specific treatments].

Correlation between the number and pattern of lateral pterygoid muscle attachments and pathologic changes of the temporomandibular joint according to Hegab stages based on MRI findings of 510 joints.

Clinical, Biochemical and Molecular Characterisation of Newborns With Fatty Acid β-Oxidation Disorders: Novel Variants in the ACADM , ACADVL and SLC22A5 Genes.

Cardiopulmonary Exercise Testing in Congenital Heart Disease: A Never-Ending Story from Paediatrics to Adult Life.

Abdominal compartment syndrome in the pediatric population - Case series and review of the literature.

Popliteal artery entrapment syndrome mistaken for chronic exertional compartment syndrome.

Pearson syndrome with atypical presentation of short stature and atypical limb proportions - First reported case in Slovakia.

Defective targeting of PNPLA1 to lipid droplets causes ichthyosis in ABHD5-syndromic epidermal differentiation disorder.

Novel heterozygous mutation in MYH3 causes contractures, pterygia, and spondylocarpostarsal fusion syndrome 1: A case report.

Homozygous DNAJB4 deletion revealing myopathy with acute respiratory failure.

ADGRG6-related disorder: a novel mutation resulting in distal arthrogryposis and a patchy neuropathy.

Clinical and molecular results in 15 Turkish patients with Wiedemann-Steiner syndrome: identification of eight novel KMT2A variants and a case of dual molecular diagnosis in the CSNK2A1.

Myopathic Symptoms and Exercise Tolerance in Adolescent Patients With Long-Chain Fatty Acid Oxidation Disorders.

Lessons learned from a muscle study in nail-patella syndrome.

An Overview of Recent Advances and Clinical Applications of Exon Skipping and Splice Modulation for Muscular Dystrophy and Various Genetic Diseases.

Characterization of Variants of Uncertain Significance in ACADVL Gene From a Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency Patient.

Novel missense variants in CFL2 affect F-actin depolymerisation and expand the disease spectrum of CFL2-related myopathy.

Mortality Associated With Viral Bronchiolitis in a Pediatric Department: A Retrospective Analysis.

Defying the Odds: A Case Report of ACTG2-Related Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome With Complete Recovery.

Review of 40 genes causing congenital myasthenic syndromes.

The Attenuated Phenotype of CNTNAP1-Related Neuropathy Mimics Spastic-Dystonic Cerebral Palsy.

A Case of Adult-Onset VLCAD Deficiency.

Myofibrillar Myopathy: Clinico-Genetic Spectrum From a Neuromuscular Center in South India.

Myopathic Ehlers-Danlos Syndrome (mEDS) Related to COL12A1: Two Novel Families and Literature Review.

Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.

Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methods.

Gene therapy of rare diseases as a milestone in medicine - overview of the field and report on initial experiences in Slovenia.

Arthrogryposis and axonopathy in the spinal cord in offspring of beef cattle grazing regrowth Sorghum spp. in Brazil.

Selection of Children with Spasticity Other Than Cerebral Palsy: Indications, Long-Term Outcome, and Exclusion Criteria.

Baricitinib and Lonafarnib Synergistically Target Progerin and Inflammation, Improving Lifespan and Health in Progeria Mice.

ACADVL Deep Sequencing in a Case Study: Beyond the Common c.848T>C Pathogenic Variant.

A novel variant in the STIM1 gene leading to combined immunodeficiency and congenital myopathy.

Biopsy-proven granulomatous neuromyopathy in a case of Blau syndrome.

Thoracic Deformity in Fibrodysplasia Ossificans Progressiva.

The evolving genetic landscape of neuromuscular fetal akinesias.

Congenital Myasthenic Syndrome With Adult Onset Due to the Novel Heterozygous c.1399_1404del Variant in the Downstream of Tyrosine Kinase-7 (DOK7): A Case Report.

Biallelic variants in the RFC4 gene cause a rapidly progressive congenital myopathy with severe hypotonia and axial weakness.

Lipidome plasticity in medium- and long-chain fatty acid oxidation disorders: Insights from dried blood spot lipidomics.

Comparable Clinical Outcomes of Hip Arthroscopy for Femoroacetabular Impingement Syndrome in Patients With Fibromyalgia: A Propensity-Matched Study With a Mean 2-Year Follow-Up.

Using chanarin-dorfman syndrome patient fibroblasts to explore disease mechanisms and new treatment avenues.

Interventional Management of a Rare Case of Complex Congenital Heart Disease in an Adult Patient: A Case Report.

[A case of Chanarin-Dorfman syndrome].

Founder Variants in the Mexican Population: A Systematic Review.

GFPT1-related congenital myasthenic syndrome misdiagnosed as myopathy: clinical and genetic insights.

Biallelic Variant, c.644-13_644-9del in UNC50 Is Associated With Congenital Myasthenia Syndrome.

Newborn screening follow-up for very long-chain acyl-CoA dehydrogenase deficiency in Colorado: Working towards a standardized protocol.

Open Reduction of Hip Dislocation Is Associated with Higher Rates of Proximal Femoral Growth Disturbance in Patients with Arthrogryposis Multiplex Congenita Than Idiopathic DDH: A Dual-Center Retrospective Cohort Study.

Incidence and health burden of 20 rare neurological diseases in South China from 2016 to 2022: a hospital-based observational study.

Short stature, brachydactyly and joint contractures associated with novel FBN2 variants in two families.

Overlap Diagnostic Odyssey and Full Mouth Rehabilitation of a Juvenile Patient With IFIH1-Related Disorder: A Case of Aicardi-Goutières and Singleton Merten Syndromes Overlap.

Profile of Musculoskeletal Anomalies in Indian Children with Down Syndrome.

Strategies for Improving Case Reports Involving Patients With Rare Diseases.

Signs and symptoms of carriers of non-DMD X-linked neuromuscular diseases: A scoping review.

The Pathogenesis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.

STIM1 in-frame deletion of eight amino acids in a patient with moderate tubular aggregate myopathy/Stormorken syndrome.

Acute Compartment Syndrome in Congenital and Acquired Haemophilia.

[Two cases of creatine deficiency syndrome caused by GAMT gene mutations and literature review].

Xp21 Contiguous Gene Deletion Syndrome: Diagnosis, Treatment, and a Review of the Literature on a Rare Genetic Disorder.

Targeted long-read sequencing facilitates effective carrier screening for complex monogenic diseases including spinal muscular atrophy, α-/β-thalassemia, 21-hydroxylase deficiency, and fragile-X syndrome.

D-BHB supplementation before moderate-intensity exercise suppresses lipolysis and selectively blunts exercise-induced long-chain acylcarnitine increase in pilot study of patients with long-chain fatty acid oxidation disorders.

Genotype-Phenotype Landscape of NALCN and UNC80-Related Disorders.

Titinopathies: Phenotype - genotype heterogeneity in an Indian cohort.

Molecular insights into genodermatoses: Genetic findings from 43 patients.

Generation of induced pluripotent stem cell line, NCHi028-A, from a male child with Prune Belly Syndrome.

Sengers syndrome caused by biallelic TIMM29 variants and RNAi silencing in Drosophila orthologue recapitulates the human phenotype.

Establishment of a human induced pluripotent stem cell line, KMUGMCi008-A, from a patient with A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome bearing heterozygous frameshift mutation in the KAT6B gene.

Recognizing the evolution of clinical syndrome spectrum progression in individuals with single large-scale mitochondrial DNA deletion syndromes (SLSMDS).

[Rare osteological diseases in the rheumatological consultation: hypophosphatasia and phosphate loss syndromes].

Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort.

Congenital Ataxia with Progressive Cerebellar Atrophy, Camptodactyly, and Hypertrichosis: A Novel Recognizable Phenotype for NALCN Heterozygous Variants.

Case of maternal uniparental isodisomy with autosomal recessive Alport syndrome combined with congenital myasthenia and Oguchi disease.

Genomic exploration of pediatric neurological disorders: a case series.

Diagnosis and management of superficial arteriovenous malformations: French healthcare network's recommendations.

Identifying Genetic Predisposition to Dozer Lamb Syndrome: A Semi-Lethal Muscle Weakness Disease in Sheep.

Novel Syndrome With Congenital Thumb Aplasia, Epilepsy, Cognitive Impairment, and Myopathy: A Case Report.

Assessment of Fasting Metabolism With Microdialysis Indicates Earlier Lipolysis in Children With VLCADD Than MCADD.

Favorable response to ketogenic diet therapy in a patient with DYNC1H1-related epilepsy.

Novel c.221+1dup pathogenic variant in AGK gene linked to Sengers syndrome.

Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis.

An unusual cause of hypertrophic cardiomyopathy in an infant: A case report and brief literature review.

Liver Transplant Outcome in Chanarin-Dorfman Syndrome: A Rare Lipid Storage Disease.

Biallelic variants in AGRN in a family with recurrent pregnancy losses and fetal akinesia deformation sequence.

Identification of a Founder GLDN Variant Associated With "Lethal" Arthrogryposis in Nunavik Inuit: Implications for Obstetrical and Long-Term Survivors' Management.

Neonatal Rhabdomyolysis: A Case Report and Review of the Literature.

The Causality Spectrum of Dropped Head Syndrome is Broad and Includes Myopathy, Neurodegenerative Disorders, and Varia.

Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism.

Phenotypic variability in congenital myasthenic syndrome with GFPT1 mutation.

A Gain-of-Function Mutation in the Ca2+ Channel ORAI1 Causes Stormorken Syndrome with Tubular Aggregates in Mice.

Bmpr1aa modulates the severity of the skeletal phenotype in an fkbp10-deficient Bruck syndrome zebrafish model.

A clinical case of CACNA1S-related muscle weakness in a Holstein calf with congenital astasia diagnosed by a genotyping test of stored blood.

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

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

Familial osteochondrodysplastic and cardiomyopathic syndrome in Chianina cattle.

Family Occurrence of an m.3303C>T Point Mutation in the MT-TL1 Gene, Which Induces Cardiomyopathy Syndrome with/without Skeletal Muscle Myopathy.

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

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

Molecular Study of the Fukutin-Related Protein (FKRP) Gene in Patients from Southern Italy with Duchenne/Becker-like Phenotype.

Long-term hematopoietic dysfunction in patients with large-scale mitochondrial DNA deletion syndromes.

Particularities of spasticity in myelomeningocele patients.

Unlocking the Temporomandibular Joint: CT, MRI, and Arthroscopic Correlation.

Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population.

Bruck syndrome in pregnancy.

Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy.

Prenatal Phenotype of Alkuraya-Kučinskas Syndrome: A Novel Case and Systematic Literature Review.

New evidence supports RYR3 as a candidate gene for developmental and epileptic encephalopathy.

The Clinical Heterogeneity of Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)-A Report of Three Cases, Including Twins.

From ECG to Imaging: Challenges in the Diagnosis of Adult Congenital Heart Diseases.

Sil1-deficient fibroblasts generate an aberrant extracellular matrix leading to tendon disorganisation in Marinesco-Sjögren syndrome.

Pediatric neuromuscular channelopathies.

SCYL2-related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita-4 and beyond?

Influence of β2-adrenergic selective agonist formoterol on the motor unit of a mouse model of a congenital myasthenic syndrome with complete VAChT deletion.

A lmod1a mutation causes megacystis microcolon intestinal hypoperistalsis in a CRISPR/Cas9-modified zebrafish model.

Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.

COL12A1 Gene Variant and a Review of the Literature: A Case Report of Ullrich Congenital Muscular Dystrophy.

SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.

Discovery of novel disease-causing mutation in SSBP1 and its correction using adenine base editor to improve mitochondrial function.

Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort.

Beneficial normalization of cardiac repolarization by carnitine in transgenic short QT syndrome type 1 rabbit models.

Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.

Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit.

A case of restrictive dermopathy in a Hutterite newborn: Diagnosis and creative skin-directed management.

A novel start-loss mutation of the SLC29A3 gene in a consanguineous family with H syndrome: clinical characteristics, in silico analysis and literature review.

[Click phenomenon in acquired Jaensch-Brown syndrome and trigger finger/thumb: the Notta syndrome].

COL4A1-related disorder as a mimic of congenital TORCHES infection-Expanding the clinical, neuroimaging and genotype spectrum.

Identification of four TTN variants in three families with fetal akinesia deformation sequence.

Presentation of Rare Phenotypes Associated with the FKBP10 Gene.

Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants.

Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins.

Four cases of Chanarin-Dorfman syndrome presenting with different types of erythrokeratoderma.

Congenital hallux valgus occurs in Fibrodysplasia Ossificans Progressiva and BMPR1B-associated dysplasia: an important distinction.

An updated protocol for mandibular reconstruction in nongrowing patients with craniofacial microsomia with temporomandibular joint total prosthesis.

Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry.

Primary disease of adipose tissue: When to think about and how to evaluate it in clinical practice?

Multiple Pterygium Syndrome (Escobar Syndrome): A Rare Form of Prenatal Myasthenia Presenting With Arthrogryposis Multiplex Congenita.

Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis.

RASopathies - what they reveal about RAS/MAPK signaling in skeletal muscle development.

New clinical classification of stiff skin syndrome.

Polymerizing laminins in development, health, and disease.

STAC3 disorder: a common cause of congenital hypotonia in Southern African patients.

Hypotonia and Poor Weight Gain in a 4-month-old Girl.

An idiopathic severe macroglossia in a young adult patient: a rare case.

Molecular regulation of myocyte fusion.

Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects.

Long-term Outcomes of Surgically Treated Congenital Dislocation of the Knee.

Exome sequencing of 1190 non-syndromic clubfoot cases reveals HOXD12 as a novel disease gene.

Unusual cause of muscle weakness, type II respiratory failure and pulmonary hypertension: a case report of ryanodine receptor type 1(RYR1)-related myopathy.

Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome.

FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations.

Leukocytes containing lipid inclusions in congenital ichthyosis without classical Chanarin-Dorfman mutations.

Novel compound heterozygous mutations in SCN4A as a potential genetic cause contributing to myopathic manifestations: A case report and literature review.

Developments in Hand Surgery: Experience from a Tertiary Hospital of Northern Bangladesh.

Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies.

ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndrome.

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: A Case Report of an Uncommon Condition.

Novel PIP5K1C variant identified in a Chinese pedigree with lethal congenital contractural syndrome 3.

Clinical decision support system supported interventions in hospitalized older patients: a matter of natural course and adequate timing.

Clinical Reasoning: A 19-Month-Old Girl With Infantile-Onset Myopathy and White Matter Changes.

Pediatric Temporomandibular Joint Pathology.