TY - JOUR
T1 - Leigh syndrome with Fukuyama congenital muscular dystrophy
T2 - A case report
AU - Kondo, Hidehito
AU - Tanda, Koichi
AU - Tabata, Chihiro
AU - Hayashi, Kohei
AU - Kihara, Minako
AU - Kizaki, Zenro
AU - Taniguchi-Ikeda, Mariko
AU - Mori, Masato
AU - Murayama, Kei
AU - Ohtake, Akira
N1 - Funding Information:
This study was supported, in part, by an Innovative Cell Biology grant from Innovative Technology (Cell Innovation Program) of the Ministry of Education, Culture, Sports, Science, and Technology, Japan. Our work was also supported by grants-in-aid of the research on intractable diseases (mitochondrial disorders) of the Ministry of Health, Labour and Welfare of Japan.
PY - 2014/9
Y1 - 2014/9
N2 - We report the first case of Leigh syndrome (LS) with Fukuyama congenital muscular dystrophy (FCMD). A neonate suffered from lactic acidosis and subsequently presented with poor feeding, muscle weakness, hypotonia, cardiopulmonary dysfunction, and hydrocephalus. He died at 17. months. The findings of brain magnetic resonance imaging indicated some specific features of both LS and FCMD, and FCMD gene mutation was detected. Decreased mitochondrial respiratory complex I and II activity was noted. Mitochondrial DNA sequencing showed no pathogenic mutation. A case with complex I. +. II deficiency has rarely been reported, suggesting a nuclear gene mutation.
AB - We report the first case of Leigh syndrome (LS) with Fukuyama congenital muscular dystrophy (FCMD). A neonate suffered from lactic acidosis and subsequently presented with poor feeding, muscle weakness, hypotonia, cardiopulmonary dysfunction, and hydrocephalus. He died at 17. months. The findings of brain magnetic resonance imaging indicated some specific features of both LS and FCMD, and FCMD gene mutation was detected. Decreased mitochondrial respiratory complex I and II activity was noted. Mitochondrial DNA sequencing showed no pathogenic mutation. A case with complex I. +. II deficiency has rarely been reported, suggesting a nuclear gene mutation.
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U2 - 10.1016/j.braindev.2013.09.005
DO - 10.1016/j.braindev.2013.09.005
M3 - Article
C2 - 24113355
AN - SCOPUS:84904463059
VL - 36
SP - 730
EP - 733
JO - Brain and Development
JF - Brain and Development
SN - 0387-7604
IS - 8
ER -