Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy.
Lien Van EyckFrancesco BruniAnne RonanTracy A BriggsTony RoscioliGillian I RiceGrace VassalloMathieu P RoderoLangping HeRobert W TaylorJohn H LivingstonZofia M A Chrzanowska-LightowlersYanick J CrowPublished in: Neuropediatrics (2019)
Mutations in MTPAP likely cause an autosomal recessive perinatal encephalopathy with lethality in the first year of life.