Ontology highlight
ABSTRACT:
INSTRUMENT(S): Orbitrap Eclipse
ORGANISM(S): Homo Sapiens (human)
TISSUE(S): Skin, Fibroblast
DISEASE(S): Mitochondrial Complex I Deficiency
SUBMITTER: David Stroud
LAB HEAD: David Stroud
PROVIDER: PXD029707 | Pride | 2022-02-17
REPOSITORIES: Pride
Kumar Raman R Corbett Mark A MA Smith Nicholas J C NJC Hock Daniella H DH Kikhtyak Zoya Z Semcesen Liana N LN Morimoto Atsushi A Lee Sangmoon S Stroud David A DA Gleeson Joseph G JG Haan Eric A EA Gecz Jozef J
NPJ genomic medicine 20220128 1
TIMMDC1 encodes the Translocase of Inner Mitochondrial Membrane Domain-Containing protein 1 (TIMMDC1) subunit of complex I of the electron transport chain responsible for ATP production. We studied a consanguineous family with two affected children, now deceased, who presented with failure to thrive in the early postnatal period, poor feeding, hypotonia, peripheral neuropathy and drug-resistant epilepsy. Genome sequencing data revealed a known, deep intronic pathogenic variant TIMMDC1 c.597-1340 ...[more]