Table 1.

Genetic, Biochemical, and Clinical Findings in Individuals with Biallelic ATP5F1D Variants

ID	Sex	ATP5F1D Variants		OXPHOS Activities in Cultured Skin Fibroblasts					Clinical Presentation
		cDNA (GenBank:NM_001687.4)	Protein (GenBank:NP_001687.1)	Respiratory Chain Complex	Mean Enzyme Activity (%)	Absolute Values	Normal Range of Activities	Muscle Biopsy	Age at Presentation	Salient Clinical Features
S1	female	c.[245C>T];[245C>T]	p.[Pro82Leu];[Pro82Leu]	I	83%	24	18–53	normal histology and respiratory chain enzymes	2 days	hyperammonemia, cardiomyopathy, lactic acidosis, rhabdomyolysis fatigability, short stature
				I + III	267%	310	61–220
				II	92%	71	54–124
				II + III	130%	180	79–219
				IV	44%	162	270–659
				V	5% (↓↓↓)	7	78–287
				CS	63%	197	225–459
S2	male	c.[317T>G];[317T>G]	p.[Val106Gly];[Val106Gly]	I	93%	27	18–53	normal histology and respiratory chain enzymes	4 years and 10 months	hyperammonemia, ketoacidosis, delayed speech
				I + III	151%	174	61–220
				II	98%	76	54–124
				II + III	139%	193	79–219
				IV	142%	519	270–659
				V	16% (↓↓)	23	78–287
				CS	101%	314	225–459