منابع مشابه
Hypertrabeculated left ventricle in mitochondriopathy.
Abnormal left ventricular trabeculations can be a cardiac manifestation of Becker’s muscular dystrophy. Abnormal left ventricular trabeculations in mitochondrial myopathy have not been reported before. A 68 year old man with a history of chronic congestive heart failure and hypertension, had recurrent raised creatine kinase (CK) concentrations (up to 150 U/l; normal 70 U/l) with normal CKMB iso...
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When diagnosing a restrictive hypertrophied cardiomyopathy, most echocardiographists consider cardiac amyloidosis as a possible cause, especially after the appearance of 'granular' sparkling echoes on a transthoracic echocardiography. However, other infiltrative diseases (i.e. metabolic myopathies, Gaucher, Hunter's, and Hurler's diseases) or storage cardiomyopathies (haemochromatosis, Fabry's ...
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CMYK 511 lesions (infarcts), in the absence of supratentorial involvement or antecedent illness indicated posterior circulation stroke as the aetiology. The distribution of these ischemic lesions was multifocal, in the areas supplied by left superior cerebellar, left anterior inferior cerebellar and the penetrating left pontine branches of basilar arteries, thus involving the middle and distal ...
متن کاملRenal Fanconi Syndrome Is Caused by a Mistargeting-Based Mitochondriopathy.
We recently reported an autosomal dominant form of renal Fanconi syndrome caused by a missense mutation in the third codon of the peroxisomal protein EHHADH. The mutation mistargets EHHADH to mitochondria, thereby impairing mitochondrial energy production and, consequently, reabsorption of electrolytes and low-molecular-weight nutrients in the proximal tubule. Here, we further elucidate the mol...
متن کاملMitochondriopathy in Parkinson disease and amyotrophic lateral sclerosis.
The causes of the selective neurodegeneration in Parkinson disease (PD) and amyotrophic lateral sclerosis (ALS) are unknown and commonalities among these and other age-related neurodegenerative diseases continue to be sought. Morphologic, biochemical, molecular genetic, and cell/animal model studies suggest that mitochondria might be a convergence point for neurodegeneration. The functions and ...
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ژورنال
عنوان ژورنال: Acta Ophthalmologica Scandinavica
سال: 2006
ISSN: 1395-3907
DOI: 10.1111/j.1600-0420.2006.00678.x