Table 1 Patient characteristics of the mitochondrial encephalopathy cohort

Features		Group1	Group2
	Total number of patients	314	147
Sex	Male	169	73
	Female	143	69
	Unknown	2	5
Age of onset	Prenatal	6	0
	0 day to <1 month	78	14
	1 month to < 1 year	85	35
	1 year to < 3 y	47	21
	3 y to < 10 y	26	20
	10 y to <20 y	9	8
	20 y or older	5	2
	Unclear	58	47
Family history	Present	19	5
	Unremarkable within 3 degrees	295	142
Clinical diagnosis	Cardiomyopathy	4	0
	Hepatic Disease	1	1
	Leigh Disease	117	27
	Lethal Mitochondrial Infantile Disorder	2	0
	Mitochondrial Cytopathy	176	105
	Neurodegenerative Disorder	9	6
	Sudden Unexpected Death	4	8

We listed the mitochondrial encephalopathy patients in chronological order and grouped them into the two groups (Group1, n = 314; Group2, n = 147), for screening by RP-PCR. Group1 was investigated by subsequent ultralong PCR and long-read amplicon sequencing. As for the “Clinical diagnosis”, a list of pre-defined disease types (Cardiomyopathy, Hepatic Disease, Leigh Disease, Lethal Mitochondrial Infantile Disorder, Mitochondrial Cytopathy, Neurodegenerative Disorder, Sudden Unexpected Death) was used for expressing the chief clinical state of each patient.

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