An Intronic Mutation of SCN4A Associated with Myotonia Raises an Aberrantly Spliced Isoform with Disrupted Fast Inactivation

Transcriptional regulation of Munc13-4 expression in cytotoxic lymphocytes is disrupted by an intronic mutation associated with a primary immunodeficiency

Autosomal recessive mutations in UNC13D, the gene that encodes Munc13-4, are associated with familial hemophagocytic lymphohistiocytosis type 3 (FHL3). Munc13-4 expression is obligatory for exocytosis of lytic granules, facilitating cytotoxicity by T cells and natural killer (NK) cells. The mechanisms regulating Munc13-4 expression are unknown. Here, we report that Munc13-4 is highly expressed ...

A Large Dominant Myotonia Congenita Family with a V1293I Mutation in SCN4A

Dear Editor, Myotonia congenita (MC) is a group of genetically and clinically heterogeneous congenital neuromuscular channelopathies characterized by the delayed relaxation of the muscles after voluntary contraction, stiffness, hypertrophy, transient weakness, and cramping. MC is mostly associated with dominant or recessive mutations in CLCN1. However, SCN4A mutations are occasionally implicate...

Novel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis

an investigation of the types of text reduction in subtitling: a case study of the persian film gilaneh with english subtitles

چکیده ندارد.

mutation 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...