1.
Ann Noninvasive Electrocardiol
; 9(2): 175-9, 2004 Apr.
Article
in English
| MEDLINE
| ID: mdl-15084216
ABSTRACT
Andersen's Syndrome is a rare disease, hereditary with autosomal dominant transmission, of the ion channels of the sarcolemmal membranes of the cardiac and skeletal muscles (channelopathy), which affects chromosome 17 of the KCNJ2 gene, responsible for encoding the outward potassium delayed rectifier current KIR2.1, resulting in a loss or suppression of the function of this channel.
Subject(s)
Glycogen Storage Disease Type IV/genetics , Long QT Syndrome/genetics , Action Potentials/genetics , Carbonic Anhydrase Inhibitors/therapeutic use , Electrocardiography , Genetic Predisposition to Disease/etiology , Genetic Predisposition to Disease/genetics , Glycogen Storage Disease Type IV/drug therapy , Glycogen Storage Disease Type IV/etiology , Heart Conduction System/pathology , Heart Conduction System/physiopathology , Humans , Long QT Syndrome/drug therapy , Long QT Syndrome/etiology , Paralyses, Familial Periodic/drug therapy , Paralyses, Familial Periodic/etiology , Paralyses, Familial Periodic/genetics , Potassium Channels/genetics , Potassium Channels/metabolism
2.
Ryoikibetsu Shokogun Shirizu
; (18 Pt 1): 43-4, 1998.
Article
in Japanese
| MEDLINE
| ID: mdl-9589984
Subject(s)
Glycogen Storage Disease Type IV , 1,4-alpha-Glucan Branching Enzyme/deficiency , 1,4-alpha-Glucan Branching Enzyme/genetics , Diagnosis, Differential , Genes, Recessive , Glycogen Storage Disease Type IV/etiology , Glycogen Storage Disease Type IV/physiopathology , Humans , Mutation , Prognosis
3.
Arq. bras. med
; 67(2): 91-4, mar.-abr. 1993. ilus
Article
in Portuguese
| LILACS
| ID: lil-123616
ABSTRACT
Alteraçöes histopatológicas do fígado em material de biópsia de duas crianças de sete meses a três anos foram descritas e comparadas com as previamente relatadas na literatura. O diagnóstico foi feito com base nas manifestaçöes clínicas, achados de microscopia óptica e, em um dos casos, nos achados ultra-estruturais