Cavitating Leukoencephalopathy in a Child Carrying the MitochondrialA8344GMutation: Fig 1.

Cavitating leukoencephalopathy in a child carrying the mitochondrial A8344G mutation.

Mitochondrial A8344G Mutation Mitochondrial disorders are usually characterized by the combination of deep gray and white matter involvement on brain imaging. However, a selective white matter involvement has been reported in specific mitochondrial diseases, including Leber hereditary optic neuropathy, myoneurogastrointestinal encephalomyopathy, and mitochondrial encephalomyopathy with lactic a...

a study of the fifth child and ben in the world by doris lessing in the light of julia kristevas psychoanalytic concepts

این مطالعه به بررسی عوامل روانشناختی کریستوادردو رمان دوربس لسینگ،فرزندبنجم و بن دردنیای واقعی می بردازد.موفقیت یا شکست کاراکترهادر تکمیل شکست تتیزی یه کمک بدر وهم از مهم ترین دغدغه محقق می باشد.به بررسی تحلیل روانشناختی تمامی کاراکترها خصوصا بن برداخته و به دنبال نشانه هایی از جامعه شیشه ای کریستوا می باشد.

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

Multiple Mitochondrial Dysfunction Syndrome (MMDS) comprises a group of severe autosomal recessive diseases with onset in early infancy and characterized by a systemic disorder of energy metabolism, resulting in weakness, respiratory failure, lack of neurological development, lactic acidosis, and early death. Biochemical findings include defects of complexes I, II, and III of the mitochondrial ...

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.

Cytochrome c oxidase (COX) deficiency is a frequent biochemical abnormality in mitochondrial disorders, but a large fraction of cases remains genetically undetermined. Whole-exome sequencing led to the identification of APOPT1 mutations in two Italian sisters and in a third Turkish individual presenting severe COX deficiency. All three subjects presented a distinctive brain MRI pattern characte...

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