Table 1. Clinical patient characteristics.

	Patient 1	Patient 2	Patient 3	Patient 4	Patient 5
Muscle hypotonia	+	+	+	+	+
Developmental/speech delay	+/+	+/+	+/+	+/+	+/+
Epilepsy	+	−	+	+	−
Deafness	−	+	−	+	+
Cardiomyopathy	−	+	−	−	+
Pulmonal stenosis	+	+	+	−	−
Short stature	+	+	+	+	+
Swallowing problems	+	−	+	+	+
Failure to thrive	+	−	+	+	+
Dysmorphic facial features (at the time of syndrome diagnosis)	+	+	+	+	+
Hair/skin abnormalities	+	+	+	+	+
MDC score before muscle biopsya	6	8	8	8	7
Age at muscle biopsy	14 y	2 y	2.5 y	14 m	18 m
Syndrome diagnosis (age at diagnosis)	CFC (15 y)	LEOPARD (3 y)	CFC (4.5 y)	CFC (2 y)	NS (18 m)

Abbreviations: m, months; y, years; NS, not significant.

^aMDC score 6: mitochondrial disease probable, MDC score 8: mitochondrial disease definite.³