Certain specified congenital or developmental myasthenia (Q92773)
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Congenital or developmental myasthenic syndromes are a rare heterogeneous group of inherited neuromuscular disorders characterised by compromised neuromuscular transmission. They are classified as presynaptic, synaptic, or postsynaptic, depending on the primary defect’s location within the neuromuscular junction. The genetic defects either impair neuromuscular transmission directly or result in secondary impairments, which eventually compromise the safety margin of neuromuscular transmission.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1039514197 |
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| English | Certain specified congenital or developmental myasthenia |
Congenital or developmental myasthenic syndromes are a rare heterogeneous group of inherited neuromuscular disorders characterised by compromised neuromuscular transmission. They are classified as presynaptic, synaptic, or postsynaptic, depending on the primary defect’s location within the neuromuscular junction. The genetic defects either impair neuromuscular transmission directly or result in secondary impairments, which eventually compromise the safety margin of neuromuscular transmission. |
