Congenital Myasthenic Syndrome Report
Congenital Myasthenic Syndrome
Mutations underlying Congenital Myasthenic Syndrome involve neuromuscular junctions (i.e. the points of contact between the nerve endings and the muscle fibers), where takes place the transmission of impulses that allow muscle contraction. Destruction of this contact compromises muscle function, resulting in weakness and slowed development of motor skills.
More than 25 genes analyzed
It is recommended if:
For those exhibiting signs and symptoms of the disease, for the purpose of excluding or confirming the diagnosis. Genetic testing is also useful for discriminating the various forms of Congenital Myasthenic Syndromes and for those with a family history of this pathology.
List of main conditions:
- Congenital Myasthenic Syndrome
Simple workflow
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