congenital myopathy
SaudiVarKB evidence summary derived from retained literature mentions.
124Phenotype mentions
100Publications
50Associated gene records
50Associated variant records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| DYSF | HGNC:3097 | 4 | 4 |
| COL6A1 | HGNC:2211 | 3 | 3 |
| TTN | HGNC:12403 | 3 | 3 |
| SLCO1B1 | HGNC:10959 | 3 | 3 |
| MYH7 | HGNC:7577 | 2 | 2 |
| GNE | HGNC:23657 | 2 | 2 |
| MTM1 | HGNC:7448 | 2 | 2 |
| PGM1 | HGNC:8905 | 2 | 2 |
| SLC25A42 | HGNC:28380 | 2 | 2 |
| GAA | HGNC:4065 | 2 | 2 |
| COL6A3 | HGNC:2213 | 2 | 2 |
| DNAJB4 | HGNC:14886 | 2 | 2 |
| FKRP | HGNC:17997 | 2 | 2 |
| NEB | HGNC:7720 | 2 | 2 |
| CAPN3 | HGNC:1480 | 2 | 2 |
| FLNC | HGNC:3756 | 2 | 2 |
| MYO18B | HGNC:18150 | 2 | 2 |
| VCP | HGNC:12666 | 2 | 2 |
| ANO5 | HGNC:27337 | 2 | 2 |
| ALG2 | HGNC:23159 | 2 | 2 |
| SLC22A5 | HGNC:10969 | 2 | 2 |
| ABCG2 | HGNC:74 | 2 | 2 |
| CD68 | HGNC:1693 | 2 | 2 |
| STAT6 | HGNC:11368 | 1 | 1 |
| SMCHD1 | HGNC:29090 | 1 | 1 |
| PUS1 | HGNC:15508 | 1 | 1 |
| KCNQ1 | HGNC:6294 | 1 | 1 |
| DMPK | HGNC:2933 | 1 | 1 |
| DUX4 | HGNC:50800 | 1 | 1 |
| STAT1 | HGNC:11362 | 1 | 1 |
| AGL | HGNC:321 | 1 | 1 |
| FGF23 | HGNC:3680 | 1 | 1 |
| SLC39A4 | HGNC:17129 | 1 | 1 |
| LMNA | HGNC:6636 | 1 | 1 |
| COL6A2 | HGNC:2212 | 1 | 1 |
| JPH1 | HGNC:14201 | 1 | 1 |
| MPV17 | HGNC:7224 | 1 | 1 |
| ABCC9 | HGNC:60 | 1 | 1 |
| RBCK1 | HGNC:15864 | 1 | 1 |
| LDB3 | HGNC:15710 | 1 | 1 |
| PHEX | HGNC:8918 | 1 | 1 |
| BIN1 | HGNC:1052 | 1 | 1 |
| ADAM22 | HGNC:201 | 1 | 1 |
| LGI1 | HGNC:6572 | 1 | 1 |
| MEGF10 | HGNC:29634 | 1 | 1 |
| SGCA | HGNC:10805 | 1 | 1 |
| SGCG | HGNC:10809 | 1 | 1 |
| LAMA2 | HGNC:6482 | 1 | 1 |
| MEFV | HGNC:6998 | 1 | 1 |
| CACNA1S | HGNC:1397 | 1 | 1 |
Associated variant records
Co-mentioned in the same publications| Variant | Identifier / context | Articles | Mentions |
|---|---|---|---|
| p.Gly590Arg | p.Gly590Arg | 1 | 1 |
| c.1056+1G>A | c.1056+1G>A | 1 | 1 |
| c.1817-3C>G | c.1817-3C>G | 1 | 1 |
| p.R183* | p.R183* | 1 | 1 |
| p.R259* | p.R259* | 1 | 1 |
| p.K35N | p.K35N | 1 | 1 |
| p.R61G | p.R61G | 1 | 1 |
| c.354C>A | c.354C>A | 1 | 1 |
| p.Tyr118* | p.Tyr118* | 1 | 1 |
| c.373delG | c.373delG | 1 | 1 |
| c.1738delC | c.1738delC | 1 | 1 |
| c.1510delG | c.1510delG | 1 | 1 |
| c.6905C>A | c.6905C>A | 1 | 1 |
| p.Ser2302* | p.Ser2302* | 1 | 1 |
| c.6660_6670del | c.6660_6670del | 1 | 1 |
| C287T | C287T | 1 | 1 |
| p.P96L | p.P96L | 1 | 1 |
| c.464A>G | c.464A>G | 1 | 1 |
| p.Asn155Ser | p.Asn155Ser | 1 | 1 |
| p.R50Q | p.R50Q | 1 | 1 |
| p.P98L | p.P98L | 1 | 1 |
| p.R41Q | p.R41Q | 1 | 1 |
| c.897_918dup | c.897_918dup | 1 | 1 |
| IVS32 | IVS32 | 1 | 1 |
| p.P46S | p.P46S | 1 | 1 |
| Q238R | Q238R | 1 | 1 |
| rs201722521 | rs201722521 | 1 | 1 |
| rs71581988 | rs71581988 | 1 | 1 |
| C43R | C43R | 1 | 1 |
| rs4149056 | rs4149056 | 1 | 1 |
| H677R | H677R | 1 | 1 |
| V696M | V696M | 1 | 1 |
| c.2122-1G>C | c.2122-1G>C | 1 | 1 |
| rs1799853 | rs1799853 | 1 | 1 |
| rs1057910 | rs1057910 | 1 | 1 |
| Q141K | Q141K | 1 | 1 |
| p.Lys286Ter | p.Lys286Ter | 1 | 1 |
| p.Arg25Gln | p.Arg25Gln | 1 | 1 |
| p.Leu262Ser | p.Leu262Ser | 1 | 1 |
| c.164_165insA | c.164_165insA | 1 | 1 |
| A8344G | A8344G | 1 | 1 |
| A3243G | A3243G | 1 | 1 |
| R155C | R155C | 1 | 1 |
| R155H | R155H | 1 | 1 |
| R155P | R155P | 1 | 1 |
| m.3243A>G | m.3243A>G | 1 | 1 |
| c.373_375+2delGAGGT | c.373_375+2delGAGGT | 1 | 1 |
| c.785-1G>T | c.785-1G>T | 1 | 1 |
| c.458G>A | c.458G>A | 1 | 1 |
| E211X | E211X | 1 | 1 |
Associated population records
Co-mentioned in the same publicationsSupporting publications
100 records- 2026Advances in Gene Therapy for X-Linked Myotubular Myopathy: Current Progress and Future Challenges.Current gene therapy1 mentions
- 2026The Absence of Collagen VI Reduces Systolic Function but Paradoxically Increases Ca2+ Release in the Rat Heart.Acta physiologica (Oxford, England)1 mentions
- 2026GNE-related thrombocytopenia (Thrombocytopenia-12) in a 3-month-old from a Middle Eastern background infant: a case report.Hematology (Amsterdam, Netherlands)1 mentions
- 2026A Case of Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia (MLASA Syndrome) and Long QT Interval in a 10-Year-Old Saudi Child.Saudi journal of medicine & medical sciences1 mentions
- 2026DYSF gene variant spectrum in Arab populations across eight countries: A systematic review.Biomolecules & biomedicine1 mentions
- 2026Complications in acute respiratory distress syndrome: a systematic review and meta-analysis.Critical care (London, England)1 mentions
- 2026Clinical spectrum, cardiac phenotypes, and outcomes of FHL1-related cardiomyopathies: a systematic review.BMC cardiovascular disorders1 mentions
- 2025Computational insights into dynamics and conformational stability of N-acetylmannosamine kinase mutations.Journal of biomolecular structure & dynamics1 mentions
- 2025Inflammatory myopathy with abundant macrophage [IMAM]: Systemic analysis and pathological approach to distinguish it from dermatomyositis.Journal of neuromuscular diseases1 mentions
- 2025Electrodiagnostic characteristics of neuromuscular disease in paediatric intensive care.Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology1 mentions
- 2025Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathway.Brain : a journal of neurology1 mentions
- 2025Unveiling hidden risks: pharmacogenetic insights from a cross-sectional study of statin therapy in the Indian population.Pharmacological reports : PR1 mentions
- 2025Effect of Spirulina platensis Versus Simvastatin on the Skeletal Muscles of Experimentally Induced Dyslipidemia: A Multitarget Approach to Muscle Ultrastructural and Cytomolecular Modulation.Medical sciences (Basel, Switzerland)1 mentions
- 2025Resilience Story of Managing Severe Obstructive Sleep Apnea With Hypoventilation Secondary to SELENON (SEPN1)-Related Myopathy.Respirology case reports1 mentions
- 2025Novel PGM1 Mutation in Congenital Disorder of Glycosylation Type 1T: A Case Report of Liver Failure and Myopathy.The American journal of case reports1 mentions
- 2025Inevitable Posterior Lower Segment Cesarean Section Due to Irreducible Uterine Torsion in a Woman Carrying X-Linked Myotubular Myopathy: A Case Report.Cureus1 mentions
- 2025Clinical insights into mitochondrial retinopathy: A case report on m.3243A>G mutation and macular dystrophy.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society1 mentions
- 2025Diagnostic Precision in Pediatric Neuromuscular Disorders: A Case Study of Bethlem Myopathy Mimicking Duchenne Muscular Dystrophy.Cureus1 mentions
- 2024Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions.Genetics in medicine : official journal of the American College of Medical Genetics1 mentions
- 2024A child with dilated cardiomyopathy and homozygous splice site variant in FLNC gene.Molecular genetics and metabolism reports1 mentions
- 2024Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.Brain : a journal of neurology1 mentions
- 2024A Case of a Newborn With Nemaline Myopathy From Al-Qunfudhah City, Saudi Arabia.Cureus1 mentions
- 2024Fluvastatin-induced myofibrillar damage is associated with elevated ROS, and impaired fatty acid oxidation, and is preceded by mitochondrial morphological changes.Scientific reports1 mentions
- 2024STAC3-related myopathy: A Report of a Cohort of Seven Saudi Arabian Patients.Neuropediatrics1 mentions
- 2024Why Craniofacial Surgeons/Researchers Need to be Aware of Native American Myopathy?Neuropediatrics1 mentions
- 2024Filamin C-Associated Nemaline Myopathy.Neurology1 mentions
- 2024Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement.Journal of medical genetics1 mentions
- 2024Clinical and genetic evaluation of hereditary myopathies in an adult Saudi cohort.BMC neurology1 mentions
- 2024Genotype‒phenotype correlation in recessive DNAJB4 myopathy.Acta neuropathologica communications1 mentions
- 2024Immune-Mediated Megaconial Myopathy: A Novel Subtype of Autoimmune Myopathy.Neurology1 mentions
- 2024Platelet-rich plasma ameliorates dexamethasone-induced myopathy by suppressing autophagy and enhancing myogenic potential through modulation of Myo-D, Pax-7, and myogenin expression.Tissue & cell1 mentions
- 2024Segregation of the COL6A2 Variant (c.1817-3C>G) in a Consanguineous Saudi Family with Bethlem Myopathy.Genes1 mentions
- 2024Effects of hydrolyzed yeast on growth performance, intestinal redox homeostasis, and woody breast myopathy in heat-stressed broilers.Frontiers in veterinary science1 mentions
- 2023Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy.European journal of human genetics : EJHG1 mentions
- 2023Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.Acta neuropathologica1 mentions
- 2023AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase 1 deficiency (PGM1-CDG).Translational research : the journal of laboratory and clinical medicine1 mentions
- 2023The frequency of major ABCG2, SLCO1B1 and CYP2C9 variants in Asian, Native Hawaiian and Pacific Islander women subgroups: implications for personalized statins dosing.Pharmacogenomics1 mentions
- 2022A novel variant of RBCK1 gene causes mild polyglucosan myopathy.Neurosciences (Riyadh, Saudi Arabia)1 mentions
- 2022Clinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi Arabia.Frontiers in neuroscience1 mentions
- 2022Co-occurrence of Glycogen Storage Disease Type 2 and Congenital Myasthenic Syndrome Type 5 in a Pediatric Patient: A Case Report.Cureus1 mentions
- 2022MT-TA pathogenic variants may cause developmental and epileptic encephalopathy without myopathy.American journal of medical genetics. Part A1 mentions
- 2022Statins Induce Locomotion and Muscular Phenotypes in Drosophila melanogaster That Are Reminiscent of Human Myopathy: Evidence for the Role of the Chloride Channel Inhibition in the Muscular Phenotypes.Cells1 mentions
- 2022Quality of life in Barth syndrome.Therapeutic advances in rare disease1 mentions
- 2021Further delineation of MYO18B-related autosomal recessive Klippel-Feil syndrome with myopathy and facial dysmorphism.American journal of medical genetics. Part A1 mentions
- 2021Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathy.Clinical genetics1 mentions
- 2021Tissue Lipidomic Alterations Induced by Prolonged Dexamethasone Treatment.Journal of proteome research1 mentions
- 2021Diagnosis and management of X-linked hypophosphatemia in children and adolescent in the Gulf Cooperation Council countries.Archives of osteoporosis1 mentions
- 2021α-tropomyosin gene (TPM3) mutation in an infant with nemaline myopathy.Clinical case reports1 mentions
- 2021Structural insight into mutations at 155 position of valosin containing protein (VCP) linked to inclusion body myopathy with Paget disease of bone and frontotemporal Dementia.Saudi journal of biological sciences1 mentions
- 2021Nemaline Myopathy: A Case Report.Case reports in neurology1 mentions
- 2021Phenotypic Variability of MEGF10 Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population.Genes1 mentions
- 2021Exome Sequencing Reveals Novel TTN Variants in Saudi Patients with Congenital Titinopathies.Genetic testing and molecular biomarkers1 mentions
- 2020Transthyretin amyloidosis: Putting myopathy on the map.Muscle & nerve1 mentions
- 2020Statin therapy in athletes and patients performing regular intense exercise - Position paper from the International Lipid Expert Panel (ILEP).Pharmacological research1 mentions
- 2020The spectrum of muscle pathologies: Three decades of experience from a reference laboratory in Saudi Arabia.Annals of diagnostic pathology1 mentions
- 2020Unusual clinical features associated with congenital generalized lipodystrophy type 4 in a patient with a novel E211X CAVIN1 gene variant.Clinical diabetes and endocrinology1 mentions
- 2020The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.Neurology1 mentions
- 2020A Chemically Defined Common Medium for Culture of C2C12 Skeletal Muscle and Human Induced Pluripotent Stem Cell Derived Spinal Spheroids.Cellular and molecular bioengineering1 mentions
- 2019Immune myopathy with large histiocyte-related myofiber necrosis.Neurology1 mentions
- 2019A very rare form of autosomal dominant progressive myoclonus epilepsy caused by a novel variant in the PRICKLE1 gene.Seizure1 mentions
- 2019Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.Genetics in medicine : official journal of the American College of Medical Genetics1 mentions
- 2019MYL2-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing.Cold Spring Harbor molecular case studies1 mentions
- 2019A novel mutation in TTN gene in a Saudi patient with bilateral facial weakness and scapular winging.Intractable & rare diseases research1 mentions
- 2019Hypokalemic periodic paralysis due to CACNA1S gene mutation.Neurosciences (Riyadh, Saudi Arabia)1 mentions
- 2019The expanding spectrum of neurological disorders of phosphoinositide metabolism.Disease models & mechanisms1 mentions
- 2019Carnitine Inborn Errors of Metabolism.Molecules (Basel, Switzerland)1 mentions
- 2019Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre.Neuromuscular disorders : NMD1 mentions
- 2018NEW OBSERVATIONS REGARDING THE RETINOPATHY OF GENETICALLY CONFIRMED KEARNS-SAYRE SYNDROME.Retinal cases & brief reports1 mentions
- 2018MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.Human mutation1 mentions
- 2018Myopathy, athletism, pregnancy, race, and chromosomal defects need to be considered in noncompaction.Journal of the Saudi Heart Association1 mentions
- 2018Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy.Clinical genetics1 mentions
- 2018Enhanced skeletal muscle formation on microfluidic spun gelatin methacryloyl (GelMA) fibres using surface patterning and agrin treatment.Journal of tissue engineering and regenerative medicine1 mentions
- 2018A case of atypical systemic primary carnitine deficiency in Saudi Arabia.Pediatric reports1 mentions
- 2018Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.Physiological genomics1 mentions
- 2018Thymoquinone Attenuates Cardiomyopathy in Streptozotocin-Treated Diabetic Rats.Oxidative medicine and cellular longevity1 mentions
- 2018LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology1 mentions
- 2017The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.Journal of human genetics1 mentions
- 2017Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease.Neurosciences (Riyadh, Saudi Arabia)1 mentions
- 2017Pediatric Hypovitaminosis D: Molecular Perspectives and Clinical Implications.Global pediatric health1 mentions
- 2017Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation.Genetics in medicine : official journal of the American College of Medical Genetics1 mentions
- 2017Methylglyoxal and Advanced Glycation End products: Insight of the regulatory machinery affecting the myogenic program and of its modulation by natural compounds.Scientific reports1 mentions
- 2017Novel duplication mutation of the DYSF gene in a Pakistani family with Miyoshi Myopathy.Saudi medical journal1 mentions
- 2016Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans.Human genetics1 mentions
- 2016Large-scale mitochondrial DNA deletion underlying familial multiple system atrophy of the cerebellar subtype.Clinical case reports1 mentions
- 2016Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.The Journal of pediatrics1 mentions
- 2016Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy.American journal of medical genetics. Part A1 mentions
- 2016A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.Human genomics1 mentions
- 2016Acrodermatitis enteropathica in a pair of twins.Journal of dermatological case reports1 mentions
- 2015A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B.Journal of medical genetics1 mentions
- 2015Clinical and genetic features of anoctaminopathy in Saudi Arabia.Neurosciences (Riyadh, Saudi Arabia)1 mentions
- 2015Screening of mitochondrial mutations and insertion-deletion polymorphism in gestational diabetes mellitus in the Asian Indian population.Saudi journal of biological sciences1 mentions
- 2015Anti-GAD-associated inflammatory myopathy presenting with dropped head syndrome.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology1 mentions
- 2014Mitochondria: role of citrulline and arginine supplementation in MELAS syndrome.The international journal of biochemistry & cell biology1 mentions
- 2014Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome.Neuromuscular disorders : NMD1 mentions
- 2014Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy.Journal of neurology, neurosurgery, and psychiatry1 mentions
- 2014The clinical pharmacogenetics implementation consortium guideline for SLCO1B1 and simvastatin-induced myopathy: 2014 update.Clinical pharmacology and therapeutics1 mentions
- 2014Pompe disease: literature review and case series.Neurologic clinics1 mentions
- 2014A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families.Annals of Saudi medicine1 mentions
- 2013Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy.Clinical dysmorphology1 mentions
- 2013Unforeseen cardiac involvement in McArdle's disease.Heart, lung & circulation1 mentions