Pelizaeus-Merzbacher Disease

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چکیده

Pelizaeus-Merzbacher disease (PMD) is a rare and progressive condition affecting the central nervous system. [1] It is one of a group of gene-linked disorders known as the leukodystrophies, which are all characterised by myelin sheath abnormalities. This is due to a mutation in the gene that controls the production of a myelin protein called proteolipid protein 1 (PLP1). The exact type of PLP1 mutation dictates the onset and severity of PMD. PMD can be classified into different types:

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منابع مشابه

Proton MR spectroscopy in Pelizaeus-Merzbacher disease.

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Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease.

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تاریخ انتشار 2017