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Mostrando ítems 1-10 de 27
Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype
(WILEY-BLACKWELLMALDEN, 2012)
We describe a large Brazilian consanguineous kindred with 3 clinically affected patients with a Thomsen myotonia phenotype. They carry a novel homozygous nonsense mutation in the CLCN1 gene (K248X). None of the 6 heterozygote ...
Hereditary myotonia in American Bulldog associated with a novel frameshift mutation in the CLCN1 gene
(Elsevier B.V., 2020-12-01)
Hereditary myotonia (HM) is a genetic disorder that occurs due to mutations in the chloride channel and results in delayed relaxation of the skeletal muscles. HM has been described in 12 dog breeds, and in five of them, ...
A large intragenic deletion in the CLCN1 gene causes Hereditary Myotonia in pigs
(2019-12-01)
Mutations in the CLCN1 gene are the primary cause of non-dystrophic Hereditary Myotonia in several animal species. However, there are no reports of Hereditary Myotonia in pigs to date. Therefore, the objective of the present ...
Estudo da miotonia hereditária em suínos
(Universidade Estadual Paulista (Unesp), 2018-07-10)
A principal causa de miotonia não distrófica hereditária ocorre devido à mutações no gene CLCN1, codificante para a proteína CLC1 que forma o canal iônico seletivo para o íon cloreto predominante no tecido muscular ...
Miotonia canina hereditária: características clínicas, eletromiográficas e estudo molecular no gene CLCN1
(Universidade Estadual Paulista (Unesp), 2019-09-24)
A miotonia hereditária (MH) é uma enfermidade muscular hereditária não distrófica. Manifesta-se pela presença de hipertrofia muscular e miotonia que melhora com o exercício, fenômeno conhecido como “warm-up”. As alterações ...
Erratum: Publisher Correction: A large intragenic deletion in the CLCN1 gene causes Hereditary Myotonia in pigs (Scientific reports (2019) 9 1 (15632))
(2020-02-25)
An amendment to this paper has been published and can be accessed via a link at the top of the paper.