Article
A patient with mitochondrial disorder due to a novel mutation in MRPS22.
Metabolic brain disease - 1 Oct 2017
Kılıç Mustafa, Oğuz Kader-Karli, Kılıç Esra, Yüksel Deniz, Demirci Hüseyin, Sağıroğlu Mahmut Şamil, Yücel-Yılmaz Didem, Özgül Rıza Köksal
Abstract excerpt
MRPS22 gene defect is a very rare newly discovered mitochondrial disorder. We report a 4-month-old severely affected male infant with MRPS22 mutation. Whole exome sequencing revealed a novel homozygous splicing mutation c.339 + 5 G > A in MRPS22 gene. He has mild dysmorphism, hypotonia, developmental delay but not hypertrophic cardiomyopathy and tubulopathy which differ from other majority of reported patients....
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