Table 2.
Patient characteristics at study recruitment
Patient | Sex | Age | Diagnosisa | Primary clinical features | Sequence |
---|---|---|---|---|---|
A | M | 26 | Complex IV deficiency | progressive loss of walking ability due to muscle weakness, visual impairment, retinal dystrophy, hearing loss, no decrease in intellectual function | Control, Washout, Vibration |
B | F | 3 | Complex I & III deficiency | non-ambulatory (except when cruising), seizure disorder, hypotonia, developmental delay | Vibration, Washout, Control |
C | M | 61 | Ragged red fiber disease | muscle weakness, pain | Control, Washout, Vibration |
D | F | 42 | Complex I, IV & V deficiency | imbalance, muscle weakness, pain | Vibration, Washout, Control |
E | F | 36 | SANDO Syndrome (POLG1)b | progressive decrease in ambulation due to muscle weakness, fatigue | Vibration, Washout, Control |
F | F | 80 | MELAS Syndromec | muscle weakness, progressive loss of ambulation, no decrease in intellectual function | Control, Washout, Vibration |
G | F | 55 | mtDNA Deletion Syndromed | muscle weakness, fatigue | Vibration, Washout, Control |
SANDO Sensory ataxic neuropathy, dysarthria, and opthalmoparesis, POLG1 DNA polymerase subunit gamma 1, MELAS mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes, mtDNA mitochondrial DNA. a each diagnosis was confirmed from analyzed skeletal muscle biopsies, bSANDO Syndrome (POLG1) A467T & C1143G compound heterozygote, cMELAS m.3243A > G, dNovel m.6342–14,004 mtDNA deletion