Gajda, Anna and Szabó, Hajnalka and Gergev, Gyurgyinka and Karcagi, Veronika and Szabó, Nóra and Börcsökné Endreffy, Emőke and Sztriha, László (2013) Congenital myasthenic syndromes and transient myasthenia gravis. IDEGGYOGYASZATI SZEMLE / CLINICAL NEUROSCIENCE, 66 (5-6). pp. 200-203. ISSN 0019-1442
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Abstract
Hypotonia in the neonatal period and early infancy is a common clinical finding. It can be caused by various heterogeneous disorders of different origin which might lead to diagnostic difficulties. Disorders of the neuromuscular ¡such as congenital myasthenic syndromes and neonatal transient myasthenia gravis are among the aetiologies. We report on a case of congenital myasthenia caused by mutation in the long cytoplasmic loop of the epsilon subunit of the acetylcholine receptor and a neonate of a myasthenic mother diagnosed with transient myasthenia gravis.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | Treatment Outcome; Quinidine; Neuropsychological tests; Myasthenic Syndromes, Congenital; Myasthenia Gravis, Neonatal; Intelligence Tests; Infant; Immunoglobulin G; Humans; Genetic Testing; Diagnosis, Differential; Cholinesterase Inhibitors; Child; weakness; rhesus incompatibility; respiratory tract infection; respiratory failure; remission; ptosis; polymerase chain reaction; newborn; neuropsychological test; neonatal hyperbilirubinemia; MYOPATHY; Myasthenia gravis; mutational analysis; muscle hypotonia; motor dysfunction; mother; mastication; human; Homozygote; heterozygote; Gestational Age; gene sequence; gene mutation; Gene Deletion; follow up; Female; eye movement disorder; exon; exchange blood transfusion; dysarthria; crying; consanguineous marriage; congenital myasthenic syndrome; case report; Bottle Feeding; Birth Weight; ARTICLE; Apgar score; ALLELE; academic achievement; unclassified drug; cholinergic receptor antibody; cholinergic receptor; acetylcholine receptor epsilon; Transient neonatal myasthenia; congenital myasthenic syndromes; Quinidine/therapeutic use; Myasthenic Syndromes, Congenital/*diagnosis/drug therapy/*genetics; Myasthenia Gravis, Neonatal/*diagnosis/drug therapy/*immunology; Immunoglobulin G/*blood; *Genetic Testing; Cholinesterase Inhibitors/therapeutic use |
| Subjects: | R Medicine / orvostudomány > R1 Medicine (General) / orvostudomány általában |
| SWORD Depositor: | MTMT SWORD |
| Depositing User: | MTMT SWORD |
| Date Deposited: | 23 Aug 2018 12:06 |
| Last Modified: | 23 Aug 2018 12:06 |
| URI: | http://real.mtak.hu/id/eprint/82937 |
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