Open AccessLip cyanosis as the first symptom of Leigh syndrome associated with mitochondrial complex I deficiency due to a compound heterozygous NDUFS1 mutation: A case report
Author(s) -
Lina Men,
Jinxing Feng,
Weimin Huang,
Minhui Xu,
Xiaoli Zhao,
Ruixin Sun,
Jiake Xu,
Liming Cao
Publication year - 2022
Publication title -
medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.59
H-Index - 148
eISSN - 1536-5964
pISSN - 0025-7974
DOI - 10.1097/md.0000000000030303
Subject(s) - medicine , compound heterozygosity , mitochondrial disease , respiratory failure , mechanical ventilation , respiratory chain , mitochondrial respiratory chain , pediatrics , apnea , gastroenterology , cardiology , mitochondrial dna , mitochondrion , mutation , biochemistry , chemistry , biology , gene , microbiology and biotechnology