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Pelizaeus–Merzbacher disease
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==Cause== Pelizaeus–Merzbacher disease is caused by [[X-linked recessive]] mutations in the major myelin [[protein]] [[proteolipid protein 1]] (''PLP1''). This causes [[hypomyelination]] in the [[central nervous system]] and severe neurological disease. The majority of mutations result in duplications of the entire ''PLP1'' gene. Deletions of ''PLP1'' locus (which are rare) cause a milder form of Pelizaeus–Merzbacher disease than is observed with the typical duplication mutations, which demonstrates the critical importance of [[gene dosage]] at this locus for normal CNS function.<ref> {{cite journal |last1=Sima |first1=A.A.F. |last2= Pierson |first2=C.R. |last3=Woltjer |first3=R.L. |last4=et |first4=al |title=Neuronal loss in Pelizaeus–Merzbacher disease differs in various mutations of the proteolipid protein 1 |journal=Acta Neuropathol |issue=4 |pages=531–539 |date=2009 |volume=118 |doi=10.1007/s00401-009-0562-8 |pmid=19562355 |url=https://doi.org/10.1007/s00401-009-0562-8 |access-date=January 14, 2024|pmc=3876935 }} </ref>
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