Congenital Myasthenic Syndromes: End-Plate AChR Lack
نویسندگان
چکیده
منابع مشابه
Congenital myasthenic syndromes.
Congenital myasthenic syndromes are a rare group of heterogeneous disorders affecting neuromuscular transmission. Recent identification and in-vitro functional analysis of some of the genetic mutations that cause these disorders correlates with previous electrophysiological, biochemical, pathological and therapeutic studies, and has advanced our understanding of neuromuscular transmission.
متن کاملCongenital myasthenic syndromes.
PURPOSE OF REVIEW Congenital myasthenic syndromes are a heterogeneous group of diseases caused by genetic defects affecting neuromuscular transmission. In this article, a strategy that leads to the diagnosis of congenital myasthenic syndromes is presented, and recent advances in the clinical, genetic and molecular aspects of congenital myasthenic syndrome are outlined. RECENT FINDINGS Besides...
متن کاملcongenital myasthenic syndromes
congenital myasthenic syndromes (cms) are a group of diseases caused by genetic defects affecting neuromuscular transmission and are heterogeneous in inheritance and pathophysiology. these are classified as: 1. presynaptic defects: including choline acetyl transferase deficiency, paucity of synaptic vesicles, lambert-eaton like cms 2. synaptic defect: endplate ach esterase deficiency 3. postsyn...
متن کاملCongenital myasthenic syndromes: recent advances.
Congenital myasthenic syndromes (CMS) can arise from presynaptic, synaptic, or postsynaptic defects. Mutations of the acetylcholine receptor (AChR) that increase or decrease the synaptic response to acetylcholine (ACh) are a common cause of the postsynaptic CMS. An increased response occurs in the slow-channel syndromes. Here, dominant mutations in different AChR subunits and in different domai...
متن کاملCongenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.
The congenital myasthenic syndromes (CMS) are a diverse group of genetic disorders caused by abnormal signal transmission at the motor endplate, a special synaptic contact between motor axons and each skeletal muscle fibre. Most CMS stem from molecular defects in the muscle nicotinic acetylcholine receptor, but they can also be caused by mutations in presynaptic proteins, mutations in proteins ...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1998
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-12-2-12