Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.
Overview publication
Title | Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome. |
Date | 2020-12-01 |
Issue name | Acta neuropathologica |
Issue number | v140.6:971-975 |
DOI | 10.1007/s00401-020-02223-w |
PubMed | 33015733 |
Authors | |
Info | SHMT2 Working Group, Oyarzábal A, Medina I, Ormazábal A, Muchart J, Carretero JM, Jou C, Del Toro M, Nascimento A, Paredes AJ, Yubero D, Colomé R |
Keywords | Cardiomyopathy, Congenital microcephaly, Mitochondrial one-carbon metabolism, Perisylvian polymicrogyria, SHMT2 |
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