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单词 Lafora progressive myoclonic epilepsy
释义

Lafora progressive myoclonic epilepsy

英语百科

Lafora disease

Lafora disease has an autosomal recessive pattern of inheritance.

Lafora disease, also called Lafora progressive myoclonic epilepsy or MELF, is a fatal autosomal recessive genetic disorder characterized by the presence of inclusion bodies, known as Lafora bodies, within the cytoplasm of the cells of the heart, liver, muscle, and skin. In a later study, Lafora disease has been and is now viewed as a neurodegenerative disease, since prior to the actual formation of Lafora bodies there has been seen to be an impairment in the development of cerebral cortical neurons. It was further concluded that Lafora disease is a complex neurodegenerative disease and also a glycogen metabolism disorder.

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更新时间:2025/6/19 22:00:59