Article
Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.
American journal of human genetics - 1 Jul 2008
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
Abstract excerpt
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-recessive Pelizaeus-Merzbacher-like disease (PMLD). However, many patients of both genders with PMLD carry neither...
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