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Congenital Myasthenic Syndromes And Myasthenia Gravis Are Challenging Diagnoses In Neurological Practice
(Assoc Arquivos Neuro- PsiquiatriaSão Paulo, 2016)
Prevalence of mutations responsible for glycogen storage disease type-II and congenital myasthenic syndrome in Brazilian Brahman cattle
(2018-11-01)
Glycogen storage disease type II (GSD-II) and congenital myasthenic syndrome (CMS) are important autosomal recessive disorders in Brahman cattle. The objective of this study was to investigate the presence of mutations ...
Congenital myasthenic syndrome due to dok7 mutations in a family from chile
(2017)
Congenital myasthenic syndromes (CMS) are neuromuscular transmission disorders caused by mutations in genes encoding neuromuscular junction proteins. A 61-year-old female and her older sister showed bilateral ptosis, facial ...
Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis
(Springer, 2021-04)
Human ALG2 encodes an α 1,3mannosyltransferase that catalyzes the first steps in the synthesis of N-glycans in the endoplasmic reticulum. Variants in ALG2cause a congenital disorder of glycosylation (CDG) known as ALG2-CDG. ...
Investigação das mutações responsáveis pela doença de acúmulo de glicogênio tipo II e pela miastenia hereditária em bovinos da raça Brahman no Brasil
(Universidade Estadual Paulista (Unesp), 2017-11-01)
A doença de acúmulo de glicogênio tipo II (GSD-II) e a síndrome miastênica congênita (CMS) são enfermidades autossômicas recessivas importantes no gado Brahman. Nenhum estudo avaliou previamente a prevalência de mutações ...
Miastenia congénita postsináptica por mutaciones en el gen CHRNE: reporte de caso y revisión de literatura
Mutations in the CHRNE gene are the most common cause of congenital myasthenia. The neuromuscular junction transmission is impaired by a primary AChR deficiency or an alteration of the kinetic properties of the receptor. ...