Congenital Microcoria: Clinical Features and Molecular Genetics
نویسندگان
چکیده
منابع مشابه
Clinical features, muscle biopsy and molecular genetics
Objective: The aim of the study was to analyze a series of Brazilian patients suffering from MELAS. Method: Ten patients with MELAS were studied with correlation between clinical findings, laboratorial data, electrophysiology, histochemical and molecular features. Results: Blood lactate was increased in eight patients. Brain image studies revealed a stroke-like pattern in all patients. Muscle b...
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Complex I deficiency is the most frequent mitochondrial disorder presenting in childhood, accounting for up to 30% of cases. As with many mitochondrial disorders, complex I deficiency is characterised by marked clinical and genetic heterogeneity, leading to considerable diagnostic challenges for the clinician, not least because of the involvement of two genomes. The most prevalent clinical pres...
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ژورنال
عنوان ژورنال: Genes
سال: 2021
ISSN: 2073-4425
DOI: 10.3390/genes12050624