GeneticsBiochimica et Biophysica Acta (BBA) - Molecular Basis of DiseasePeer-reviewed
SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement
Elianne P. Bulthuis, Merel J.W. Adjobo-Hermans, Bastiaan de Potter…·Richard J. Rodenburg
This paper identifies SMDT1 variants that cause EMRE protein absence and impair mitochondrial calcium uptake in patients with muscle involvement.
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