Case#: 28 patients, 21 retrospectives, 7 prospectives.

DiseaseAssertion: patients had reported unsolved metabolic condition, possible mitochondrial disorder. Onset ranged from prenatal to 7 years, study ranged from 1 year to 29, 9 patients died

FamilyInfo:individual family histories not summerized

ParentalTesting:all reported varients confirmed via sanger sequencing on parents, though most had proband only sequencing.

CasePresentingHPOs: “motor developmental delay, intellectual disability, developmental regression, muscle weakness, dystonia, choreoathetosis, ataxia, tremor, nystagmus, strabismus, Epilepsy, Brain atrophy CaseHPOFreeText: mri showed brain atrophy in 10, white matter injury in 6, hypo/aplasia of the corpus collosum in 3, mitochondrial hypoplasia in 5, myofibular disorganization in 2.

CaseNotHPOs: not reported

CaseNotHPOFreeText: not reported

CasePreviousTesting: retrospective patients had mtdna investigations done without diagnosis

Genotyping Method: WES and Sanger

FunctionalAnalysis: reported for selected finding such as impaired adp/atp transports for a variant slc25a4, no cohort wide analysis

Variant: heterogenous findings across the cohort genes read included SLC25A4, POLG, SPATA5, NDUFB11, SMN1, MYH2, LMNA, TSPOAP1, CACNA1A, ALS2, SCN2A, EPG5, NKX1-2, ATRX, ABCC6, and MYBPC3. Though for the cardiomyopathy purposes, c.1828G > A, p.(Asp610Asn) c.1543_1545delAAC, p.(Asn515del)

ClinVar: 2247822

CAID: not reported

gnomAD: not reported

AdditionalInfo: WES diagnostic yield was 16/28, 4 patients where diagnosed via MD. The paper suggests WES as a first step for children though there where sensitivity limitations.