Abstract:
: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. Therefore, hypertrophic cardiomyopathy and tubulopathy may not be considered as constant features of MRPS22. With this case report, we also present first symmetrical bilateral brainstem and medial thalamic lesions, and cerebellar and cerebral atrophy on a brain MR imaging follow-up of ten months.
journal_name
Metab Brain Disjournal_title
Metabolic brain diseaseauthors
Kılıç M,Oğuz KK,Kılıç E,Yüksel D,Demirci H,Sağıroğlu MŞ,Yücel-Yılmaz D,Özgül RKdoi
10.1007/s11011-017-0074-5subject
Has Abstractpub_date
2017-10-01 00:00:00pages
1389-1393issue
5eissn
0885-7490issn
1573-7365pii
10.1007/s11011-017-0074-5journal_volume
32pub_type
杂志文章abstract::At the present time alcoholism is recognized as a metabolic disease exhibiting the clinical features of craving for alcohol, loss of control over drinking, tolerance and physical dependence on alcohol, while both epidemiological and experimental studies have demonstrated that genetic factors may be important in determ...
journal_title:Metabolic brain disease
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