Becker Muscular Dystrophy
Last Posted: Oct 08, 2021
- A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Megarbane Andre et al. Journal of neuromuscular diseases 2021
- Genetic identification of pathogenic variations of the DMD gene: a retrospective study from 10,481 neonatal patients based on next-generation sequencing data.
Xiao Tiantian et al. Annals of translational medicine 2021 9(9) 766
- Genotype-Phenotype Correlations in Duchenne and Becker Muscular Dystrophy Patients from the Canadian Neuromuscular Disease Registry.
Lim Kenji Rowel Q et al. Journal of personalized medicine 2020 Nov 10(4)
- Advances in Genetic Characterization and Genotype–Phenotype Correlation of Duchenne and Becker Muscular Dystrophy in the Personalized Medicine Era
O Sheikh et al, JPM, September 3, 2020
- Duchenne and Becker muscular dystrophy carriers: Evidence of cardiomyopathy by exercise and cardiac MRI testing.
Mah May Ling et al. International journal of cardiology 2020 May
- Comprehensive genetic diagnosis of patients with Duchenne/Becker muscular dystrophy (DMD/BMD) and pathogenicity analysis of splice site variants in the DMD gene.
Yang Yan-Mei et al. Journal of Zhejiang University. Science. B 20(9) 753-765
- Assessing the barriers to cardiac care in carriers of Duchenne and Becker muscular dystrophy.
Eekhoff Lauren et al. Journal of genetic counseling 2019 Aug
- Update in Duchenne and Becker muscular dystrophy.
Waldrop Megan A et al. Current opinion in neurology 2019 Jul
- De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany.
König Kirsten et al. Orphanet journal of rare diseases 2019 Jun 14(1) 152
- [Genetic analysis and prenatal diagnosis of Duchenne or Becker muscular dystrophy].
Zhao W et al. Zhonghua fu chan ke za zhi 2019 Apr 54(4) 226-231
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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