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Title[redir]:
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations | Neurogenetics
Description:
Myopathy-lactic acidosis-sideroblastic anemia (MLASA) syndrome is a rare autosomal recessive disease. We studied a 43-year-old female presenting since childhood with mild cognitive impairment and sideroblastic anemia. She later developed hepatopathy, cardiomyopathy, and insulin-dependent diabetes. Muscle weakness appeared in adolescence and, at age 43, she was unable to walk. Two novel different mutations in the PUS1 gene were identified: c.487delA (p.I163Lfs*4) and c.884 G>A (p.R295Q). Quantitative analysis of DNA from skeletal muscle biopsies showed a significant increase in mitochondrial DNA (mtDNA) content in the patient compared to controls. Clinical and molecular findings of this patient widen the genotype-phenotype spectrum in MLASA syndrome.
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article, pubmed, google, scholar, cas, mitochondrial, anemia, sideroblastic, myopathy, mlasa, mutation, genet, pus, syndrome, lactic, acidosis, central, italy, gene, hum, clinical, valentino, carelli, salviati, pegoraro, fischelghodsian, university, privacy, cookies, content, patient, elena, med, synthase, zeviani, padova, department, information, publish, research, search, molecular, mutations, published, alessandra, maresca, erratum, disease, access, casas,
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month download article/chapter enrico bertini mitochondrial disease article neurogenetics aims sideroblastic anemia-mlasa syndrome full article pdf rodriguez hernandez ma privacy choices/manage cookies autosomal recessive syndrome unusual clinical expression author information authors luchak jm argininosuccinate lyase deficiency mlasa syndrome due muscle weakness appeared european economic area mild cognitive impairment insulin-dependent diabetes persian jews caused androgen-dependent impairment bulbar muscular atrophy ross-cisneros fn yu-wai-man hereditary optic neuropathy ethics declarations conflict conditions privacy policy de novo mutation article cao genotype-phenotype spectrum check access instant access elena pegoraro valerio carelli accepting optional cookies homozygous yars2 mutation opa1 missense mutations mtdna author correspondence long-surviving patient pus1 gene med genet 25a med genet 127a article log belfort jr journal finder publish matteo cassina rosalba carozzo lucia valentino mlasa syndrome clinical maze
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description:Myopathy-lactic acidosis-sideroblastic anemia (MLASA) syndrome is a rare autosomal recessive disease. We studied a 43-year-old female presenting since childhood with mild cognitive impairment and sideroblastic anemia. She later developed hepatopathy, cardiomyopathy, and insulin-dependent diabetes. Muscle weakness appeared in adolescence and, at age 43, she was unable to walk. Two novel different mutations in the PUS1 gene were identified: c.487delA (p.I163Lfs*4) and c.884Â G>A (p.R295Q). Quantitative analysis of DNA from skeletal muscle biopsies showed a significant increase in mitochondrial DNA (mtDNA) content in the patient compared to controls. Clinical and molecular findings of this patient widen the genotype-phenotype spectrum in MLASA syndrome.
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description:Myopathy-lactic acidosis-sideroblastic anemia (MLASA) syndrome is a rare autosomal recessive disease. We studied a 43-year-old female presenting since childhood with mild cognitive impairment and sideroblastic anemia. She later developed hepatopathy, cardiomyopathy, and insulin-dependent diabetes. Muscle weakness appeared in adolescence and, at age 43, she was unable to walk. Two novel different mutations in the PUS1 gene were identified: c.487delA (p.I163Lfs*4) and c.884Â G>A (p.R295Q). Quantitative analysis of DNA from skeletal muscle biopsies showed a significant increase in mitochondrial DNA (mtDNA) content in the patient compared to controls. Clinical and molecular findings of this patient widen the genotype-phenotype spectrum in MLASA syndrome.
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