COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency

Conclusions We report here the first patient carrying pathogenic mutations of COA7, causative of isolated COX deficiency and progressive neurological impairment. We also show that COA7 is a soluble protein localized to the matrix, rather than in the intermembrane space as previously suggested.
Source: Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Open access, Genetic screening / counselling, Molecular genetics, Neuromuscular disease, Peripheral nerve disease, Memory disorders (psychiatry) Mitochondrial genetics Source Type: research

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Source: Phytomedicine - Category: Drugs & Pharmacology Source Type: research
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Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
Authors: Saxena P, Muthu V, Dhooria S, Sehgal IS, Prasad KT, Agarwal R Abstract Methotrexate monotherapy is a common management strategy in rheumatoid arthritis (RA). Treatment with immunosuppression can lead to opportunistic infections such as Pneumocystis jirovecii pneumonia (PJP). The treatment options for PJP include cotrimoxazole, clindamycin-primaquine and dapsone. Though these drugs are generally well tolerated, they can result in potentially severe adverse effects. Sometimes several undesired events may occur in a single patient, reminding us of Murphy's law. Herein, we report a case which exemplifies this ...
Source: New Zealand Medical Journal - Category: General Medicine Tags: N Z Med J Source Type: research
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