Now showing items 1-10 of 23
Erythrocyte alkaline phosphatase in patients with myotonic muscle disorders
(Universidad del Zulia, 2013)
CTG repeats at the myotonic protein kinase gene in a healthy Chilean population sample
To study the variability at the myotonic dystrophy protein kinase (DMPK) gene in a Chilean sample of healthy people. DM1 is an autosomal dominant disorder caused by an expansion of a (CTG) repeat at the 3′-UTR of the gene ...
An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies
Myotonic disorders are inherited neuromuscular diseases divided into dystrophic myotonias and non-dystrophic myotonias (NDM). The latter is a group of dominant or recessive diseases caused by mutations in genes encoding ...
Disfagia orofaríngea na distrofia miotônica: avaliação fonoaudiológica e análise nasofibrolaringoscópica
(Academia Brasileira de Neurologia - ABNEURO, 2001-06-01)
We herein present twenty myotonic dystrophy of Steinert patients with the main objective to evaluate and classify the oropharyngeal swallowing by the phonoaudiological clinical and nasofibrolaryngoscopical analysis. The ...
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, ...
Miotonía congénita: reporte de un caso
Becker syndrome is a congenital myotonia of autosomal recessive inheritance that is produced by mutations in the skeletal muscle chlorine gene (CLCN1) leading to a defect in its function. It generally begins in childhood ...
Clinical and molecular study of a new form of hereditary myotonia in Murrah water buffalo
Hereditary myotonia caused by mutations in CLCN1 has been previously described in humans, goats, dogs, mice and horses. The goal of this study was to characterize the clinical, morphological and genetic features of hereditary ...