AFP	Alpha-fetoprotein
AHRQ	Agency for healthcare research and quality
ALP	Alkaline phosphatase
ALT	Alanine aminotransferase
AST	Aspartate aminotransferase
CBC	Complete blood count
CMs	Mitochondrial cytopathies
CVI	Content Validity Index
CVR	Content Validity Ratio
DCM	Dilated cardiomyopathy
DVA	Decreased visual acuity
EMG	Electroneuromyography
ERG	Electroretinogram
FeK	Fractional excretion of potassium
FeNA	Fractional excretion of sodium
FGF21	Fibroblast growth factor 21
GH	Growth hormone stimulation
GDF15	Growth differentiation factor 15
HCM	Hypertrophic cardiomyopathy
HIMSS	Health Information and Management Systems Society
HTN	Hypertension
IGF-1	Insulin-like growth factor 1
IUFD	Intrauterine Fetal Demise
IUGR	Intrauterine growth restriction
LHON	Leber’s hereditary optic neuropathy
LVEF	Left ventricular ejection fraction
LVNC	Left ventricular non-compaction
MDS	Minimum Data Set
MELAS	Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
MITOCON	Italian Registry of Patients with Mitochondrial Diseases
NAMDC	North American Mitochondrial Disease Consortium
OCT	Optical coherence tomography
POA	Organic acids in plasma
RBC	Red blood cell concentrates
S-CVI/Ave	Average of CVI across items
S-CVI/UA	Universal Agreement
TSH	Thyroid-stimulating hormone
TTE	Transthoracic echocardiography
UOA	Organic acids in urine
VEP	Visual evoked potentials
WES	Whole-exome sequencing
WGS	Whole-genome sequencing
WPW	Wolff–Parkinson–White syndrome