Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness.
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Neu-Laxova syndrome
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congenital myasthenic syndrome with tubular aggregates
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inclusion body myopathy with Paget disease of bone and frontotemporal dementia
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syndromic intellectual disability
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abdominal obesity-metabolic syndrome
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fibrogenesis imperfecta ossium
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