Diseases of the nervous system
Diseases of myoneural junction and muscle
Autosomal recessive
2p13.3
Congenital myasthenic syndrome-12 is an autosomal recessive neuromuscular disorder characterized by onset of proximal muscle weakness in the first decade. EMG classically shows a decremental response to repeated nerve stimulation. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 610542.1 | Saudi Arabia | Female | Developmental regression; Retinal degene... Developmental regression; Retinal degeneration  | NM_001244710.2:c.1588C>T | Homozygous | Autosomal, Recessive | Monies et al. 2019 | |||
| 610542.2.G | Saudi Arabia | Unknown | Yes | Muscle weakness Muscle weakness | NM_001244710.2:c.686-1G>A | Homozygous | Autosomal, Recessive | Monies et al. 2019 | Three siblings, all ... |