Presynaptic Congenital Myasthenic Syndrome
نویسندگان
چکیده
منابع مشابه
Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome
During chemical transmission, the function of synaptic proteins must be coordinated to efficiently release neurotransmitter. Synaptotagmin 2, the Ca2+ sensor for fast, synchronized neurotransmitter release at the human neuromuscular junction, has recently been implicated in a dominantly inherited congenital myasthenic syndrome associated with a non-progressive motor neuropathy. In one family, a...
متن کاملHomozygous mutations in VAMP 1 cause a presynaptic congenital myasthenic syndrome
We report 2 families with undiagnosed recessive presynaptic congenital myasthenic syndrome (CMS). Whole exome or genome sequencing identified segregating homozygous variants in VAMP1: c.51_64delAGGTGGGGGTCCCC in a Kuwaiti family and c.146G>C in an Israeli family. VAMP1 is crucial for vesicle fusion at presynaptic neuromuscular junction (NMJ). Electrodiagnostic examination showed severely low co...
متن کاملCongenital 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...
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This patient is a 13-year old boy who is the product of intrauterine insemination from a nonconsanguineous marriage. He had a normal prenatal period including normal fetal movements and a reported normal amniocentesis carried out due to advanced maternal age (39year old at the time of pregnancy). He was born at term by vaginal delivery and with normal Apgar score. However, during the neonatal p...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2001
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-15-8-7