Congenital Myasthenic Syndrome and AChR Mutation
نویسندگان
چکیده
منابع مشابه
Novel synaptobrevin‐1 mutation causes fatal congenital myasthenic syndrome
OBJECTIVE To identify the molecular basis and elucidate the pathogenesis of a fatal congenital myasthenic syndrome. METHODS We performed clinical electrophysiology studies, exome and Sanger sequencing, and analyzed functional consequences of the identified mutation. RESULTS Clinical electrophysiology studies of the patient revealed several-fold potentiation of the evoked muscle action poten...
متن کاملMutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR.
Mutations in GFPT1 underlie a congenital myasthenic syndrome (CMS) characterized by a limb-girdle pattern of muscle weakness. Glutamine-fructose-6-phosphate transaminase 1 (GFPT1) is a key rate-limiting enzyme in the hexosamine biosynthetic pathway providing building blocks for the glycosylation of proteins and lipids. It is expressed ubiquitously and it is not readily apparent why mutations in...
متن کاملA COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic Syndrome
An autosomal recessive neuromuscular disorder characterized by skeletal muscle weakness, fatigability and variable electromyographic or muscular histopathological features has been described in the two related Sphynx and Devon Rex cat breeds (Felis catus). Collection of data from two affected Sphynx cats and their relatives pointed out a single disease candidate region on feline chromosome C2, ...
متن کاملCongenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation.
BACKGROUND The syndrome of congenital myasthenia with episodic apnea (CMS-EA) was previously found to be due to mutations in the choline acetyltransferase gene (CHAT). OBJECTIVE To identify the mutations underlying CMS-EA in a Turkish multiplex family. DESIGN Direct sequencing of the CHAT gene. PATIENTS A consanguineous Turkish family with 2 siblings affected by muscular weakness and epis...
متن کاملFundamental Gating Mechanism of Nicotinic Receptor Channel Revealed by Mutation Causing a Congenital Myasthenic Syndrome
We describe the genetic and kinetic defects in a congenital myasthenic syndrome due to the mutation epsilonA411P in the amphipathic helix of the acetylcholine receptor (AChR) epsilon subunit. Myasthenic patients from three unrelated families are either homozygous for epsilonA411P or are heterozygous and harbor a null mutation in the second epsilon allele, indicating that epsilonA411P is recessi...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2000
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-14-9-10