Mitochondrial Hsp60 Chaperonopathy Causes an Autosomal-Recessive Neurodegenerative Disorder Linked to Brain Hypomyelination and Leukodystrophy

Hypomyelinating leukodystrophies (HMLs) are disorders involving aberrant myelin formation. The prototype of primary HMLs is the X-linked Pelizaeus-Merzbacher disease (PMD) caused by mutations in PLP1. Recently, homozygous mutations in GJA12 encoding connexin 47 were found in patients with autosomal-...

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Autori principali: Magen, Daniella, Georgopoulos, Costa, Bross, Peter, Ang, Debbie, Segev, Yardena, Goldsher, Dorit, Nemirovski, Alexandra, Shahar, Eli, Ravid, Sarit, Luder, Anthony, Heno, Bayan, Gershoni-Baruch, Ruth, Skorecki, Karl, Mandel, Hanna
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2008
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2443844/
https://ncbi.nlm.nih.gov/pubmed/18571143
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.05.016
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