(Q32140070)
English
congenital myasthenic syndrome 21
congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has material basis in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11
- CMS21
- congenital myasthenic syndrome 21, presynaptic
- congenital myasthenic syndrome type 21
- Myasthenic Syndrome, Congenital, 21, Presynaptic
Statements
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Identifiers
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