MUSK , a new target for mutations causing congenital myasthenic syndrome

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Human Molecular Genetics, Vol. 13, Iss. 24, 2004-12 ,pp. : 3229-3240

Oxford University Press

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Mapping of the Familial Infantile Myasthenia (Congenital Myasthenic Syndrome Type Ia) Gene to Chromosome 17p with Evidence of Genetic Homogeneity

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Human Molecular Genetics, Vol. 6, Iss. 4, 1997-01 ,pp. : 635-640

Oxford University Press

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E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome

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Mutations in Different Functional Domains of the Human Muscle Acetylcholine Receptor α Subunit in Patients with the Slow-Channel congenital Myasthenic Syndrome

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Human Molecular Genetics, Vol. 6, Iss. 5, 1997-05 ,pp. : 767-774

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New Mutations in Acetylcholine Receptor Subunit Genes Reveal Heterogeneity in the Slow-Channel Congenital Myasthenic Syndrome

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