Pathological findings in a patient with non-dystrophic myotonia with a mutation of the SCN4A gene; a case report
نویسندگان
چکیده
منابع مشابه
an investigation of the types of text reduction in subtitling: a case study of the persian film gilaneh with english subtitles
چکیده ندارد.
15 صفحه اولA New Nonsense Mutation in CDKL5 Gene in a Male Patient with Early Onset Refractory Epilepsy: a Case Report
Background The X-linked cyclin-dependent kinase like 5 (CDKL5/STK9) gene has been shown to be responsible for a severe encephalopathy condition characterized by early onset of epilepsy and severe developmental delay. CDKL5 mutations have been shown to be more frequent among female patients. Results Here we report a 6- month male patient, second child of a healthy non consanguineous in the Irani...
متن کاملmutation analysis in exons 22 and 24 of scn4a gene in iranian patients with non-dystrophic myotonia
background: non-dystrophic myotonias are a heterogeneous set of skeletal, muscular channelopathies, which have been associated with point mutations within sodium channel α-subunit (scn4a) gene. because exons 22 and 24 of scn4a gene are recognized as hot spots for this disease, the purpose of the study is to identify mutation in exons 22 and 24 of scn4a gene in iranian non-dystrophic myotonias p...
متن کاملHereditary Ataxia with a Novel Mutation in the Senataxin Gene: A Case Report
Hereditary ataxias (HA) are a group of inherited neurological disorders caused by changes in genes. At least 115 different mutations in the senataxin (SETX) gene causing ataxia have been identified. There are no reports of any SETX gene mutation among the Iranian population. Here we report on two cases with homozygous and heterozygous mutations in which one patient was affected by HA with oculo...
متن کاملA Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene. The main feature of this disorder is muscle membrane hyperexcitability. Here, we report a 59-year male patient suffering from congenital myotonia. He had transient generalized myotonia, which...
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ژورنال
عنوان ژورنال: BMC Neurology
سال: 2019
ISSN: 1471-2377
DOI: 10.1186/s12883-019-1360-0