Mitochondrial Encephalocardio-Myopathy with Neonatal Hypotonia and TMEM70 Mutation
نویسندگان
چکیده
منابع مشابه
Neonatal pulmonary hypertension in mitochondrial disorders due to TMEM70 mutations
The article by Catteruccia et al. [1] about 9 patients with persistent neonatal pulmonary hypertension (PH) carrying TMEM70 mutations raises the following concerns. Though PH is described as persistent in 5 patients [1], it resolved completely within 1 month after delivery in patient 3 and within 12 days after birth in patient 4 [1]. In the discussion PH resolved within 1 month even in all pati...
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A 27 year old man with intestinal pseudo-obstruction who developed parenteral nutrition induced hyperlipidaemia and who also had ophthalmoplegia and an undifferentiated myopathy is described. Histological examination of biopsy specimens and molecular analysis show that this patient had both familial visceral myopathy and a mitochondrial myopathy, suggesting that a mitochondrial DNA mutation is ...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2010
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-24-5-10