GSE1462

Mitochondrial disorders

Extremely variable clinic and genetic features characterize Mitochondrial Encephalomyopathy Disorders (MED). Pathogenic mitochondrial DNA (mtDNA) defects can be divided into large-scale rearrangements and single point mutations. Clinical manifestations become evident when a threshold percentage of the total mtDNA is mutated. In some MED, the "mutant load" in an affected tissue is directly related to the severity of the phenotype. However, the clinical phenotype is not simply a direct consequence...

Provenance — who produced it, who reused it

Linked to 4 papers in the literature. Roles are inferred factual signals (who deposited the data vs who reused it), with counts — never a judgement about any author.

Standardized, field-standard QC computed by touching the data — every metric states how it was obtained

measured = computed from the data · extrapolated/reported = derived or from the repository · dq-1.0 · provisional — verify independently