Article
Poor Myocardial Compaction in a Patient with Recessive MYL2 Myopathy.
International heart journal - 30 Mar 2021
Tamamitsu Ayaka Monoi, Nakagama Yu, Domoto Yukako, Yoshida Kenichi, Ogawa Seishi, Hirono Keiichi, Shindo Takahiro, Ogawa Yosuke, Nakano Katsutoshi, Asakai Hiroko, Hirata Yoichiro, Matsui Hikoro, Inuzuka Ryo
Abstract excerpt
Recessive mutations in the Myosin regulatory light chain 2 (MYL2) gene are the cause of an infantile-onset myopathy, associated with fatal myocardial disease of variable macromorphology. We here present the first Japanese family affected with recessive MYL2 myopathy. Affected siblings manifested typical features and the proband's autopsy findings were compatible with the diagnosis of noncompaction cardiomyopathy....
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