MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
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With interest we read the article by Woods et al. about two brothers aged 37y and 35y with MLASA due to the novel variant c.302A… Expand Diagnosing primary mitochondrial diseases is challenging in clinical practice. Although, defective oxidative phosphorylation… Expand YARS2 variants have previously been described in patients with myopathy, lactic acidosis and sideroblastic anemia 2 (MLASA2… Expand Mitochondrial myopathy with lactic acidosis and sideroblastic anemia (MLASA) is an oxidative phosphorylation disorder, with… Expand Myopathy-lactic acidosis-sideroblastic anemia (MLASA) syndrome is a rare autosomal recessive disease. We studied a 43-year-old… Expand Nuclear‐encoded disorders of mitochondrial translation are clinically and genetically heterogeneous. Genetic causes include… Expand Mutations in the mitochondrial aminoacyl‐tRNA synthetases (ARSs) are associated with a strikingly broad range of clinical… Expand Mitochondrial respiratory chain disorders are a heterogeneous group of disorders in which the underlying genetic defect is often… Expand هديكچ كيتكلا زوديسا و كيتسلابورديس يمنآ ،لايردنكوتيم يتاپويم مردنس ) MLASA… Expand