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Xq22 GeneReviews Google OMIM Orphanet PubMed Who named it? [PMLD] Pelizaeus-Merzbacher disease *Gene map locus Xq22 PMD [Clinical features: nystagmus; spastic quadriplegia; ataxia; developmental delay] [Inheritance: X-linked recessive] |
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Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease |
Pelizaeus-Merzbacher Disease |
Pelizaeus-Merzbacher Disease |
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Brain |
eMedicine |
eMedicine |
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Pelizaeus-Merzbacher Disease |
Pelizaeus-Merzbacher Disease |
Position effect on PLP1 may cause a subset of Pelizaeus-Merzbacher disease symptoms |
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eMedicine |
eMedicine |
Journal of Medical Genetics |
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Edited by Aldo Campana,
March 14, 2010
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