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         headline:Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations
         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.
         datePublished:2015-11-10T00:00:00Z
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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.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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               name:IRCCS Institute of Neurological Sciences, Bellaria Hospital, Bologna, Italy
               type:PostalAddress
            type:Organization
      name:Roberto Stramare
      affiliation:
            name:University of Padova
            address:
               name:Section of Radiology, Department of Medicine, University of Padova, Padua, Italy
               type:PostalAddress
            type:Organization
      name:Enrico Bertini
      affiliation:
            name:IRCCS
            address:
               name:Unit for Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Children’s Research Hospital “Bambino Gesù”, IRCCS, Rome, Italy
               type:PostalAddress
            type:Organization
      name:Rosalba Carozzo
      affiliation:
            name:IRCCS
            address:
               name:Unit for Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Children’s Research Hospital “Bambino Gesù”, IRCCS, Rome, Italy
               type:PostalAddress
            type:Organization
      name:Leonardo Salviati
      affiliation:
            name:University of Padova
            address:
               name:Department of Women’s and Children’s Health, University of Padova, Padua, Italy
               type:PostalAddress
            type:Organization
      name:Elena Pegoraro
      affiliation:
            name:University of Padova
            address:
               name:Department of Neuroscience, University of Padova, Padua, Italy
               type:PostalAddress
            type:Organization
            name:University of Padova
            address:
               name:Department of Neurosciences, University of Padova, Padua, Italy
               type:PostalAddress
            type:Organization
      email:[email protected]
PostalAddress:
      name:Department of Neuroscience, University of Padova, Padua, Italy
      name:Department of Women’s and Children’s Health, University of Padova, Padua, Italy
      name:Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy
      name:IRCCS Institute of Neurological Sciences, Bellaria Hospital, Bologna, Italy
      name:Department of Neuroscience, University of Padova, Padua, Italy
      name:IRCCS Institute of Neurological Sciences, Bellaria Hospital, Bologna, Italy
      name:Department of Women’s and Children’s Health, University of Padova, Padua, Italy
      name:Unit for Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Children’s Research Hospital “Bambino Gesù”, IRCCS, Rome, Italy
      name:Department of Neuroscience, University of Padova, Padua, Italy
      name:Department of Neuroscience, University of Padova, Padua, Italy
      name:Department of Neuroscience, University of Padova, Padua, Italy
      name:Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy
      name:IRCCS Institute of Neurological Sciences, Bellaria Hospital, Bologna, Italy
      name:Section of Radiology, Department of Medicine, University of Padova, Padua, Italy
      name:Unit for Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Children’s Research Hospital “Bambino Gesù”, IRCCS, Rome, Italy
      name:Unit for Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Children’s Research Hospital “Bambino Gesù”, IRCCS, Rome, Italy
      name:Department of Women’s and Children’s Health, University of Padova, Padua, Italy
      name:Department of Neuroscience, University of Padova, Padua, Italy
      name:Department of Neurosciences, University of Padova, Padua, Italy
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