Pelizaeus Merzbacher Disease
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Please note that the content of this book primarily consists of articles available from Wikipedia or other free sources online. Pelizaeus Merzbacher disease (PMD) is a rare central nervous system disorder in which coordination, motor abilities, and intellectual function are delayed to variable extents.The disease is one in a group of genetic disorders collectively known as leukodystrophies that affect growth of the myelin sheath, the fatty covering which acts as an insulator on nerve fibers in the CNS. PMD is generally caused by a recessive mutation of the gene on the long arm of the…mehr

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Please note that the content of this book primarily consists of articles available from Wikipedia or other free sources online. Pelizaeus Merzbacher disease (PMD) is a rare central nervous system disorder in which coordination, motor abilities, and intellectual function are delayed to variable extents.The disease is one in a group of genetic disorders collectively known as leukodystrophies that affect growth of the myelin sheath, the fatty covering which acts as an insulator on nerve fibers in the CNS. PMD is generally caused by a recessive mutation of the gene on the long arm of the X-chromosome (Xq21-22) that codes for a myelin protein called proteolipid protein 1 or PLP1. The majority of disease-causing mutations result in duplications of the entire PLP1 gene.