Prevalence and geographical distribution of UK congenital myasthenic syndrome patients referred to the oxford national specialist commissioning advisory group service

Prevalence and geographical distribution of UK congenital myasthenic syndrome patients referred to the oxford national specialist commissioning advisory group service

Manylion Llyfryddiaeth
Prif Awduron:	Lashley, D, Burke, G, Palace, J, Beeson, D, Goldsworthy, C, Newsom-Davis, J
Fformat:	Conference item
Cyhoeddwyd:	2007

Eitemau Tebyg

A nationwide service for the diagnosis and treatment of congenital myasthenic syndromes
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CLINICAL FEATURES OF THE SLOW-CHANNEL CONGENITAL MYASTHENIC SYNDROME
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The neuromuscular junction and wide heterogeneity of congenital myasthenic syndromes
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Chronic stridor as an early presentation of congenital myasthenic syndrome due to RAPSN mutation
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Splice-site mutations in the achr epsilon subunit gene associated with congenital myasthenic syndrome
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Mutations in dok-7 underlie a congenital myasthenic syndrome with a (sic)Limb girdle broken vertical bar pattern of muscle weakness.
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Novel mutation in the muscle acetylcholine receptor a-subunit underlies a fast channel congenital myasthenic syndrome
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Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
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Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes.
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Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.
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Impaired neurotransmission in a mouse model of the slow channel congenital myasthenic syndrome is improved by the sympathomimetic drug ephedrine
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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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Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol.
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THE CLINICAL PHENOTYPIC SPECTRUM OF GFPT1 ASSOCIATED CONGENITAL MYASTHENIC SYNDROME
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Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome.
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AN UNUSUAL CASE OF CONGENITAL MYASTHENIC SYNDROME: THE MECHANISM FOR TREATMENT RESPONSE
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