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First Two Case Reports of Becker's Type Myotonia Congenita in Colombia: Clinical and Genetic Features.

Jorge Andres Olave-RodriguezFrancisco Javier Bonilla-EscobarEstephania CandeloLisa Ximena Rodriguez-Rojas
Published in: The application of clinical genetics (2021)
To our knowledge, these are the first cases of Becker's type myotonia congenita reported in Colombia. Increasing awareness of healthcare providers for this type of disease in the region could lead to the identification of undiagnosed patients. Limited availability of medical geneticists as well as genetic testing may be the cause of the lack of previous description of cases, in addition to the delay in the diagnosis of the patients. Further epidemiological studies can reveal underdiagnosed myotonias in the country and in the Latin-American region.
Keyphrases
  • healthcare
  • end stage renal disease
  • chronic kidney disease
  • ejection fraction
  • newly diagnosed
  • peritoneal dialysis
  • prognostic factors
  • genome wide
  • dna methylation
  • copy number