Splice-site mutations in the achr epsilon subunit gene associated with congenital myasthenic syndrome

Splice-site mutations in the achr epsilon subunit gene associated with congenital myasthenic syndrome

Bibliografiske detaljer
Main Authors:	Croxen, R, Vincent, A, Newsom-Davis, J, Beeson, D
Format:	Journal article
Udgivet:	2000

Lignende værker

Congenital myasthenic syndrome patients due to AChR epsilon subunit mutations
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Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.
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Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes.
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End-plate gamma- and epsilon-subunit mRNA levels in AChR deficiency syndrome due to epsilon-subunit null mutations.
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Mutations in congenital myasthenic syndromes reveal an epsilon subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR.
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Arthrogryposis multiplex congenita associated with congenital myasthenic syndrome due to mutations in the acetylcholine receptor delta subunit
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Congenital Myasthenic Syndrome and AChR Mutation
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Preferential expression of AChR epsilon-subunit in thymomas from patients with myasthenia gravis.
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Novel mutation in the muscle acetylcholine receptor a-subunit underlies a fast channel congenital myasthenic syndrome
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AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands.
af: Faber, C, et al.
Udgivet: (2009)

Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita.
af: Brownlow, S, et al.
Udgivet: (2001)

Congenital Myasthenic Syndromes: End-Plate AChR Lack
af: J Gordon Millichap
Udgivet: (1998-02-01)

Chronic stridor as an early presentation of congenital myasthenic syndrome due to RAPSN mutation
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Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes.
af: Croxen, R, et al.
Udgivet: (2002)

The defect in a slow channel myasthenic syndrome mutant, epsilon L221F
af: Hatton, C, et al.
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Effects of epsilon L78P, an acetylcholine receptor mutation that causes slow channel congenital myasthenic syndrome.
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Congenital myasthenic syndromes.
af: Beeson, D, et al.
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Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR.
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Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR
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A nationwide service for the diagnosis and treatment of congenital myasthenic syndromes
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Congenital myasthenic syndromes and the formation of the neuromuscular junction.
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Congenital myasthenic syndromes and the formation of the neuromuscular junction
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The genetic diagnosis of congenital myasthenic syndromes (CMS)
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Selective cleavage of AChR cRNAs harbouring mutations underlying the slow channel myasthenic syndrome by hammerhead ribozymes.
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The congenital myasthenic syndromes.
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AChR β-Subunit mRNAs Are Stabilized by HuR in a Mouse Model of Congenital Myasthenic Syndrome With Acetylcholinesterase Deficiency
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Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings
af: Marta Gómez-García de la Banda, et al.
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Congenital myasthenic syndrome caused by mutations in DPAGT.
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A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family
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The fourth transmembrane domain of the muscle nicotinic acetylcholine receptor epsilon subunit is not required for channel function
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Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α-ε subunit interface
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Udgivet: (2014)

Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α-ε subunit interface.
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Udgivet: (2014)

Synaptic dysfunction in congenital myasthenic syndromes.
af: Beeson, D
Udgivet: (2012)

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Udgivet: (2016)

Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes (Retracted Article. See vol 72, pg 294, 2009)
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Udgivet: (2002)

Mutations in dok-7 underlie a congenital myasthenic syndrome with a (sic)Limb girdle broken vertical bar pattern of muscle weakness.
af: Beeson, D, et al.
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