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ProteomicsMetabolic shift underlies recovery in reversible infantile respiratory chain deficiency
Reversible infantile respiratory chain deficiency (RIRCD) is a rare mitochondrial myopathy leading to severe metabolic disturbances in infants, which recover spontaneously after 6 months of age. RIRCD is associated with the homoplasmic m.14674T>C mitochondrial DNA mutation, however only ~1/100 carri...
ORGANISM(S): Homo sapiens (Human) 
2020-10-13 | PXD020181 | Pride
Mitochondrial myopathy Digenic inheritance Reversible infantile respiratory chain deficiency Homoplasmic trna mutation 
UnknownAltered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency.
Not available
S-EPMC3889809 | biostudies-literature
UnknownReversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.
Not available
S-EPMC4562368 | biostudies-literature
UnknownMetabolic shift underlies recovery in reversible infantile respiratory chain deficiency.
Not available
S-EPMC7705457 | biostudies-literature
UnknownMetabolic shift underlies recovery in reversible infantile respiratory chain deficiency
Not available
S-SCDT-EMBOJ-2020-105364-T | biostudies-other
GenomicsAnalysis of transcriptomic profiles from affected and recovered muscle biopsies from children with reversible infantile respiratory chain deficiency.
All patients carry mitochondrial mutation m.14674T>C but not must also carry mutations in related genes such as TRMU and EARS2. Analysis compares muslce biopsies of affected patients to controls, a patient after recovery to themselves during the the disease phase, and compared patients with addition...
EGAS00001004647 | EGA
UnknownExpression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients with mitochondrial myopathy associated with the homoplasmic m.14674T>C variant.
Not available
S-EPMC9245933 | biostudies-literature
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