The Experts below are selected from a list of 261192 Experts worldwide ranked by ideXlab platform
Nicolas Levy - One of the best experts on this subject based on the ideXlab platform.
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a novel myh7 mutation links congenital fiber type disproportion and myosin storage myopathy
Neuromuscular Disorders, 2011Co-Authors: Saida Ortolano, Rosa Tarrio, Patricia Blancoarias, Susana Teijeira, Francisco Rodrigueztrelles, Maria Garciamurias, Valerie Delague, Nicolas LevyAbstract:Abstract This study aimed to identify the Genetic defect in a multigenerational family presenting an autosomal dominant myopathy with histological features of congenital fiber type disproportion. Linkage analysis and Genetic Sequencing identified, in all affected members of the family, the c.5807A>G heterozygous mutation in MYH7 , which encodes the slow/β-cardiac myosin heavy chain. This mutation causes skeletal but not cardiac involvement. Myosin heavy chain expression pattern was also characterized by immunohistochemistry, western blot and q-PCR in muscle biopsies from two patients aged 25 and 62, respectively. While only congenital fiber type disproportion was observed in the younger patient, older patient's biopsy presented aggregates of slow myosin heavy chains, in fiber sub-sarcolemmal region. These clinico-pathologic findings suggest a novel phenotype within the emerging group of hereditary myosin myopathies, which in this family presents typical characteristics of congenital fiber type disproportion in early stages and later evolves to myosin storage myopathy.
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a novel myh7 mutation links congenital fiber type disproportion and myosin storage myopathy
Neuromuscular Disorders, 2011Co-Authors: Saida Ortolano, Rosa Tarrio, Patricia Blancoarias, Susana Teijeira, Francisco Rodrigueztrelles, Maria Garciamurias, Valerie Delague, Nicolas LevyAbstract:This study aimed to identify the Genetic defect in a multigenerational family presenting an autosomal dominant myopathy with histological features of congenital fiber type disproportion. Linkage analysis and Genetic Sequencing identified, in all affected members of the family, the c.5807A > G heterozygous mutation in MYH7, which encodes the slow/β-cardiac myosin heavy chain. This mutation causes skeletal but not cardiac involvement. Myosin heavy chain expression pattern was also characterized by immunohistochemistry, western blot and q-PCR in muscle biopsies from two patients aged 25 and 62, respectively. While only congenital fiber type disproportion was observed in the younger patient, older patient's biopsy presented aggregates of slow myosin heavy chains, in fiber sub-sarcolemmal region. These clinico-pathologic findings suggest a novel phenotype within the emerging group of hereditary myosin myopathies, which in this family presents typical characteristics of congenital fiber type disproportion in early stages and later evolves to myosin storage myopathy. © 2011 Elsevier B.V.
Patricia Blancoarias - One of the best experts on this subject based on the ideXlab platform.
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a novel myh7 mutation links congenital fiber type disproportion and myosin storage myopathy
Neuromuscular Disorders, 2011Co-Authors: Saida Ortolano, Rosa Tarrio, Patricia Blancoarias, Susana Teijeira, Francisco Rodrigueztrelles, Maria Garciamurias, Valerie Delague, Nicolas LevyAbstract:Abstract This study aimed to identify the Genetic defect in a multigenerational family presenting an autosomal dominant myopathy with histological features of congenital fiber type disproportion. Linkage analysis and Genetic Sequencing identified, in all affected members of the family, the c.5807A>G heterozygous mutation in MYH7 , which encodes the slow/β-cardiac myosin heavy chain. This mutation causes skeletal but not cardiac involvement. Myosin heavy chain expression pattern was also characterized by immunohistochemistry, western blot and q-PCR in muscle biopsies from two patients aged 25 and 62, respectively. While only congenital fiber type disproportion was observed in the younger patient, older patient's biopsy presented aggregates of slow myosin heavy chains, in fiber sub-sarcolemmal region. These clinico-pathologic findings suggest a novel phenotype within the emerging group of hereditary myosin myopathies, which in this family presents typical characteristics of congenital fiber type disproportion in early stages and later evolves to myosin storage myopathy.
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a novel myh7 mutation links congenital fiber type disproportion and myosin storage myopathy
Neuromuscular Disorders, 2011Co-Authors: Saida Ortolano, Rosa Tarrio, Patricia Blancoarias, Susana Teijeira, Francisco Rodrigueztrelles, Maria Garciamurias, Valerie Delague, Nicolas LevyAbstract:This study aimed to identify the Genetic defect in a multigenerational family presenting an autosomal dominant myopathy with histological features of congenital fiber type disproportion. Linkage analysis and Genetic Sequencing identified, in all affected members of the family, the c.5807A > G heterozygous mutation in MYH7, which encodes the slow/β-cardiac myosin heavy chain. This mutation causes skeletal but not cardiac involvement. Myosin heavy chain expression pattern was also characterized by immunohistochemistry, western blot and q-PCR in muscle biopsies from two patients aged 25 and 62, respectively. While only congenital fiber type disproportion was observed in the younger patient, older patient's biopsy presented aggregates of slow myosin heavy chains, in fiber sub-sarcolemmal region. These clinico-pathologic findings suggest a novel phenotype within the emerging group of hereditary myosin myopathies, which in this family presents typical characteristics of congenital fiber type disproportion in early stages and later evolves to myosin storage myopathy. © 2011 Elsevier B.V.
Francisco Rodrigueztrelles - One of the best experts on this subject based on the ideXlab platform.
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a novel myh7 mutation links congenital fiber type disproportion and myosin storage myopathy
Neuromuscular Disorders, 2011Co-Authors: Saida Ortolano, Rosa Tarrio, Patricia Blancoarias, Susana Teijeira, Francisco Rodrigueztrelles, Maria Garciamurias, Valerie Delague, Nicolas LevyAbstract:Abstract This study aimed to identify the Genetic defect in a multigenerational family presenting an autosomal dominant myopathy with histological features of congenital fiber type disproportion. Linkage analysis and Genetic Sequencing identified, in all affected members of the family, the c.5807A>G heterozygous mutation in MYH7 , which encodes the slow/β-cardiac myosin heavy chain. This mutation causes skeletal but not cardiac involvement. Myosin heavy chain expression pattern was also characterized by immunohistochemistry, western blot and q-PCR in muscle biopsies from two patients aged 25 and 62, respectively. While only congenital fiber type disproportion was observed in the younger patient, older patient's biopsy presented aggregates of slow myosin heavy chains, in fiber sub-sarcolemmal region. These clinico-pathologic findings suggest a novel phenotype within the emerging group of hereditary myosin myopathies, which in this family presents typical characteristics of congenital fiber type disproportion in early stages and later evolves to myosin storage myopathy.
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a novel myh7 mutation links congenital fiber type disproportion and myosin storage myopathy
Neuromuscular Disorders, 2011Co-Authors: Saida Ortolano, Rosa Tarrio, Patricia Blancoarias, Susana Teijeira, Francisco Rodrigueztrelles, Maria Garciamurias, Valerie Delague, Nicolas LevyAbstract:This study aimed to identify the Genetic defect in a multigenerational family presenting an autosomal dominant myopathy with histological features of congenital fiber type disproportion. Linkage analysis and Genetic Sequencing identified, in all affected members of the family, the c.5807A > G heterozygous mutation in MYH7, which encodes the slow/β-cardiac myosin heavy chain. This mutation causes skeletal but not cardiac involvement. Myosin heavy chain expression pattern was also characterized by immunohistochemistry, western blot and q-PCR in muscle biopsies from two patients aged 25 and 62, respectively. While only congenital fiber type disproportion was observed in the younger patient, older patient's biopsy presented aggregates of slow myosin heavy chains, in fiber sub-sarcolemmal region. These clinico-pathologic findings suggest a novel phenotype within the emerging group of hereditary myosin myopathies, which in this family presents typical characteristics of congenital fiber type disproportion in early stages and later evolves to myosin storage myopathy. © 2011 Elsevier B.V.
Saida Ortolano - One of the best experts on this subject based on the ideXlab platform.
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a novel myh7 mutation links congenital fiber type disproportion and myosin storage myopathy
Neuromuscular Disorders, 2011Co-Authors: Saida Ortolano, Rosa Tarrio, Patricia Blancoarias, Susana Teijeira, Francisco Rodrigueztrelles, Maria Garciamurias, Valerie Delague, Nicolas LevyAbstract:Abstract This study aimed to identify the Genetic defect in a multigenerational family presenting an autosomal dominant myopathy with histological features of congenital fiber type disproportion. Linkage analysis and Genetic Sequencing identified, in all affected members of the family, the c.5807A>G heterozygous mutation in MYH7 , which encodes the slow/β-cardiac myosin heavy chain. This mutation causes skeletal but not cardiac involvement. Myosin heavy chain expression pattern was also characterized by immunohistochemistry, western blot and q-PCR in muscle biopsies from two patients aged 25 and 62, respectively. While only congenital fiber type disproportion was observed in the younger patient, older patient's biopsy presented aggregates of slow myosin heavy chains, in fiber sub-sarcolemmal region. These clinico-pathologic findings suggest a novel phenotype within the emerging group of hereditary myosin myopathies, which in this family presents typical characteristics of congenital fiber type disproportion in early stages and later evolves to myosin storage myopathy.
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a novel myh7 mutation links congenital fiber type disproportion and myosin storage myopathy
Neuromuscular Disorders, 2011Co-Authors: Saida Ortolano, Rosa Tarrio, Patricia Blancoarias, Susana Teijeira, Francisco Rodrigueztrelles, Maria Garciamurias, Valerie Delague, Nicolas LevyAbstract:This study aimed to identify the Genetic defect in a multigenerational family presenting an autosomal dominant myopathy with histological features of congenital fiber type disproportion. Linkage analysis and Genetic Sequencing identified, in all affected members of the family, the c.5807A > G heterozygous mutation in MYH7, which encodes the slow/β-cardiac myosin heavy chain. This mutation causes skeletal but not cardiac involvement. Myosin heavy chain expression pattern was also characterized by immunohistochemistry, western blot and q-PCR in muscle biopsies from two patients aged 25 and 62, respectively. While only congenital fiber type disproportion was observed in the younger patient, older patient's biopsy presented aggregates of slow myosin heavy chains, in fiber sub-sarcolemmal region. These clinico-pathologic findings suggest a novel phenotype within the emerging group of hereditary myosin myopathies, which in this family presents typical characteristics of congenital fiber type disproportion in early stages and later evolves to myosin storage myopathy. © 2011 Elsevier B.V.
Maria Garciamurias - One of the best experts on this subject based on the ideXlab platform.
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a novel myh7 mutation links congenital fiber type disproportion and myosin storage myopathy
Neuromuscular Disorders, 2011Co-Authors: Saida Ortolano, Rosa Tarrio, Patricia Blancoarias, Susana Teijeira, Francisco Rodrigueztrelles, Maria Garciamurias, Valerie Delague, Nicolas LevyAbstract:Abstract This study aimed to identify the Genetic defect in a multigenerational family presenting an autosomal dominant myopathy with histological features of congenital fiber type disproportion. Linkage analysis and Genetic Sequencing identified, in all affected members of the family, the c.5807A>G heterozygous mutation in MYH7 , which encodes the slow/β-cardiac myosin heavy chain. This mutation causes skeletal but not cardiac involvement. Myosin heavy chain expression pattern was also characterized by immunohistochemistry, western blot and q-PCR in muscle biopsies from two patients aged 25 and 62, respectively. While only congenital fiber type disproportion was observed in the younger patient, older patient's biopsy presented aggregates of slow myosin heavy chains, in fiber sub-sarcolemmal region. These clinico-pathologic findings suggest a novel phenotype within the emerging group of hereditary myosin myopathies, which in this family presents typical characteristics of congenital fiber type disproportion in early stages and later evolves to myosin storage myopathy.
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a novel myh7 mutation links congenital fiber type disproportion and myosin storage myopathy
Neuromuscular Disorders, 2011Co-Authors: Saida Ortolano, Rosa Tarrio, Patricia Blancoarias, Susana Teijeira, Francisco Rodrigueztrelles, Maria Garciamurias, Valerie Delague, Nicolas LevyAbstract:This study aimed to identify the Genetic defect in a multigenerational family presenting an autosomal dominant myopathy with histological features of congenital fiber type disproportion. Linkage analysis and Genetic Sequencing identified, in all affected members of the family, the c.5807A > G heterozygous mutation in MYH7, which encodes the slow/β-cardiac myosin heavy chain. This mutation causes skeletal but not cardiac involvement. Myosin heavy chain expression pattern was also characterized by immunohistochemistry, western blot and q-PCR in muscle biopsies from two patients aged 25 and 62, respectively. While only congenital fiber type disproportion was observed in the younger patient, older patient's biopsy presented aggregates of slow myosin heavy chains, in fiber sub-sarcolemmal region. These clinico-pathologic findings suggest a novel phenotype within the emerging group of hereditary myosin myopathies, which in this family presents typical characteristics of congenital fiber type disproportion in early stages and later evolves to myosin storage myopathy. © 2011 Elsevier B.V.
