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1,817 results on '"Congenital myopathy"'

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

2. Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1 -Related Myopathy.

3. Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy

4. Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations

5. Integrated multi‐omics approach reveals the role of striated muscle preferentially expressed protein kinase in skeletal muscle including its relationship with myospryn complex

6. Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations.

9. A healthcare claims analysis to identify and characterize patients with suspected X-Linked Myotubular Myopathy (XLMTM) in the Brazilian Healthcare System

10. Ayurvedic Management of Duchenne Muscular Dystrophy in Children: A Narrative Review

11. Ayurvedic Management of Duchenne Muscular Dystrophy in Children: A Narrative Review.

12. Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy.

13. Case report: Dihydropyridine receptor (CACNA1S) congenital myopathy, a novel phenotype with early onset periodic paralysis.

14. Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia.

15. KLHL40-Related Myopathy: A Systematic Review and Insight into a Follow-up Biomarker via a New Case Report.

16. A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy.

17. Mechanochemical consequences of myopathy‐linked mutations in Tpm2.2 on striated muscle contractility.

18. Pediatric Neuromuscular Diseases.

19. Muscle biopsies in children – a broad overview and recent updates: where does the future lie?

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

21. Tropomyosin 3 (TPM3) function in skeletal muscle and in myopathy

22. DNM2 levels normalization improves muscle phenotypes of a novel mouse model for moderate centronuclear myopathy

24. Real-world analysis of healthcare resource utilization by patients with X-linked myotubular myopathy (XLMTM) in the United States

25. Case report: Dihydropyridine receptor (CACNA1S) congenital myopathy, a novel phenotype with early onset periodic paralysis

26. SCN4A-related congenital myopathy in a Han Chinese patient: A case report and literature review

28. Tropomyosin 3 (TPM3) function in skeletal muscle and in myopathy.

29. Abnormal myosin post‐translational modifications and ATP turnover time associated with human congenital myopathy‐related RYR1 mutations.

30. MTM1 overexpression prevents and reverts BIN1-related centronuclear myopathy.

31. The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD).

32. Top ten discoveries of the year: Neuromuscular disease

33. Early diagnosis of congenital muscular pathologies using next-generation sequencing: experiences from a tertiary center in Morocco

34. A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report

35. Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant

36. Myofibre Hyper-Contractility in Horses Expressing the Myosin Heavy Chain Myopathy Mutation, MYH1E321G

37. Bailey-Bloch Congenital Myopathy in Brazilian Patients: A Very Rare Myopathy with Malignant Hyperthermia Susceptibility.

38. Titin related myopathy with ophthalmoplegia. A novel phenotype.

39. Tamoxifen improves muscle structure and function of Bin1- and Dnm2-related centronuclear myopathies.

40. A case of giant dental calculus in a patient with centronuclear myopathy.

41. Real-world analysis of healthcare resource utilization by patients with X-linked myotubular myopathy (XLMTM) in the United States.

42. Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis.

43. A Possible Case of Centronuclear Myopathy: A Case Report.

44. Top ten discoveries of the year: Neuromuscular disease.

45. Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood

46. Early diagnosis of congenital muscular pathologies using next-generation sequencing: experiences from a tertiary center in Morocco.

47. A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report.

48. X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene.

49. A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness.

50. Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant.

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