Article
The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variant.
American journal of medical genetics. Part A - 1 Apr 2022
Katata Yu, Uneoka Saki, Saijyo Naoya, Aihara Yu, Miyazoe Takamitsu, Koyamaishi Shun, Oikawa Yoshitsugu, Ito Yuya, Abe Yu, Numata-Uematsu Yurika, Takayama Jun, Kikuchi Atsuo, Tamiya Gen, Uematsu Mitsugu, Kure Shigeo
Abstract excerpt
Congenital myasthenic syndromes (CMS) is a group of diseases that causes abnormalities at the neuromuscular junction owing to genetic anomalies. The pathogenic variant in ALG14 results in a severe pathological form of CMS causing end-plate acetylcholine receptor deficiency. Here, we report the cases of two siblings with CMS associated with a novel variant in ALG14. Immediately after birth, they showed hypotonia...
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