Skip to main content
. Author manuscript; available in PMC: 2023 Nov 1.
Published in final edited form as: Mol Genet Metab. 2022 Sep 19;137(3):230–238. doi: 10.1016/j.ymgme.2022.09.002

Table 1.

Demographics of subjects in PMD cohort by genetic subgroup etiology.

mtDNA gene
pathogenic variant,
n=80		 SLSMD,
n=24		 nDNA gene
pathogenic variant,
n=89		 Total,
n=193
Median age, year (range) 19 (2-78) 15 (0–57) 8 (0–65) 14 (0-78)
Sex
 Male, n (%) 36 (45) 13 (54) 42 (47) 91 (47)
 Female, n (%) 44 (55) 11 (46) 47 (53) 102 (53)
Alive at follow-up, n (%)
 Yes 78 (97.5) 22 (92) 71 (80) 171 (89)
 No 2 (2.5) 2 (8) 18 (20) 22 (11)
Audiological assessment performed
 Yes, n (%) 32 (40) 19 (79) 52 (58) 103 (53)
 No, n (%) 48 (60) 5 (21) 37 (42) 90 (47)
SNHL, n (%) 16 (20) 14 (58) 22 (25) 52 (27)

PMD, primary mitochondrial disease; SLSMD, Single large-scale mtDNA deletion; SNHL, Sensorineural hearing loss