Article
Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease.
European journal of human genetics : EJHG - 1 Jul 2022
Elpidorou Marilena, Poulter James A, Szymanska Katarzyna, Baron Wia, Junger Katrin, Boldt Karsten, Ueffing Marius, Green Lydia, Livingston John H, Sheridan Eammon G, Johnson Colin A
Abstract excerpt
Leukodystrophies are a heterogenous group of genetic disorders, characterised by abnormal development of cerebral white matter. Pelizaeus-Merzbacher disease is caused by mutations in PLP1, encoding major myelin-resident protein required for myelin sheath assembly. We report a missense variant p.(Ala109Asp) in MAL as causative for a rare, hypomyelinating leukodystrophy similar to Pelizaeus-Merzbacher disease. MAL...
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