Publications by authors named "Maria Krzak"
Article Synopsis
- - Mitochondrial encephalomyopathies are complex disorders with various clinical symptoms, and identifying mitochondrial DNA mutations in patients can be very challenging.
- - Researchers studied 20 children with these disorders to find mutations in muscle and blood mtDNA, using a Surveyor nuclease assay kit for better patient screening.
- - They found common polymorphisms and specific mutations, like A→G3243 in two boys with MELAS, highlighting the potential of using blood samples for mutation detection, which may reduce reliance on invasive biopsy procedures.
Osteogenesis imperfecta (OI) is a bone dysplasia caused by mutations in the COL1A1 and COL1A2 genes. Although the condition has been intensely studied for over 25 years and recently over 800 novel mutations have been published, the relation between the location of mutations and clinical manifestation is poorly understood. Here we report missense mutations in COL1A1 of several OI patients.
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