congenital myasthenic syndrome 16 (Q32140200)
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congenital myasthenic syndrome that has material basis in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23
- CMS16
- congenital myasthenic syndrome acetazolamide-responsive
- Myasthenic Syndrome, Congenital, Acetazolamide-Responsive
- congenital myasthenic syndrome type 16
- MYASTHENIC SYNDROME, CONGENITAL, 16
- MYASTHENIC SYNDROME, CONGENITAL, 16; CMS16
- Myasthenic Syndrome, Congenital, type 16
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | congenital myasthenic syndrome 16 |
congenital myasthenic syndrome that has material basis in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23 |
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