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Recessive Pathogenic GMPPB Variants Cause a Childhood Onset Myasthenic Syndrome Responsive to Pyridostigmine
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- Journal:
- Canadian Journal of Neurological Sciences / Volume 51 / Issue 4 / July 2024
- Published online by Cambridge University Press:
- 08 September 2023, pp. 595-597
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Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation
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- Journal:
- Canadian Journal of Neurological Sciences / Volume 44 / Issue 1 / January 2017
- Published online by Cambridge University Press:
- 17 October 2016, pp. 125-127
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