Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations
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چکیده
[This corrects the article on p. 102 in vol. 6, PMID: 25852744.].
منابع مشابه
Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations
BACKGROUND Mitochondrial diseases due to deficiencies in the mitochondrial oxidative phosphorylation system (OXPHOS) can be associated with nuclear genes involved in mitochondrial translation, causing heterogeneous early onset and often fatal phenotypes. CASE REPORT The authors describe the clinical features and diagnostic workup of an infant who presented with an early onset severe encephalo...
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Disorders caused by defects in the mitochondrial translation system are clinically and genetically heterogeneous. The elongation phase of mitochondrial protein synthesis requires, among many other components, three nuclear-encoded elongation factors: EFTu (TUFM; 602389), EFTs (TSFM; 604723), and EFG1 (GFM1; 606639). Mutations have been identified in the genes encoding all three elongation facto...
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Purpose: To evaluate the long-term outcome of limbal stem cell transplantation (LSCT) for the management of total limbal stem cell deficiency (LSCD) due to chemical burn in Labbafinejad Medical Center (LMC). Methods: Records of patients with a history of severe (i.e. grade III and IV) chemical burns, who were referred to LMC and underwent LSCT, were reviewed and data including demographic chara...
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Human iPSC line GFM1SV.25 was generated from fibroblasts of a child with a severe mitochondrial encephalopathy associated with mutations in the GFM1 gene, encoding the mitochondrial translation elongation factor G1. Reprogramming factors OCT3/4, SOX2, CMYC and KLF4 were delivered using a non integrative methodology that involves the use of Sendai virus.
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Mutations in nuclear genes associated with defective complex III (cIII) of the mitochondrial respiratory chain are rare, having been found in only two cIII assembly factors and, as private changes in single families, three cIII structural subunits. Recently, human LYRM7/MZM1L, the ortholog of yeast MZM1, has been identified as a new assembly factor for cIII. In a baby patient with early onset, ...
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