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Congenital myasthenic syndrome
- Congenital myasthenic syndrome is a group of conditions characterized by muscle weakness (myasthenia) that worsens with physical exertion. The ... the skin or lips (cyanosis). The prevalence of congenital myasthenic syndrome is unknown. At least 600 families with affected ...
- ... the RAPSN gene have been found to cause congenital myasthenic syndrome. Most of these mutations change single protein building ... muscle movement and the muscle weakness characteristic of congenital myasthenic syndrome. More About This Health Condition MedlinePlus Genetics provides ...
- ... the DOK7 gene have been found to cause congenital myasthenic syndrome. A mutation that frequently occurs is the addition ... muscle movement and the muscle weakness characteristic of congenital myasthenic syndrome. For reasons that are unclear, people with mutations ...
- ... the CHAT gene have been found to cause congenital myasthenic syndrome. Most of these mutations replace single DNA building ... muscle movement leading to muscle weakness characteristic of congenital myasthenic syndrome. In addition, people with congenital myasthenic syndrome who ...
- ... the COLQ gene have been found to cause congenital myasthenic syndrome. Most of these mutations change single protein building ... cells, leading to the muscle weakness characteristic of congenital myasthenic syndrome. More About This Health Condition acetylcholinesterase collagenic tail ...
- ... the CHRNE gene have been found to cause congenital myasthenic syndrome. Most of these mutations replace one DNA building ... can lead to the signs and symptoms of congenital myasthenic syndrome, including muscle weakness and delayed development of motor ...
- Neuromuscular Disorders (National Library of Medicine)Neuromuscular disorders affect your neuromuscular system. They can cause problems with: The nerves that control your muscles Your muscles Communication between your ...
- ... This Health Condition MedlinePlus Genetics provides information about Congenital myasthenic syndrome More About This Health Condition Na(V)1. ...
- ... which is not an autoimmune disorder, is called congenital myasthenic syndrome. In most cases, myasthenia gravis is not inherited ...
- ... This Health Condition MedlinePlus Genetics provides information about Congenital myasthenic syndrome More About This Health Condition At least one ...
