A carrier of Duchenne muscular dystrophy with dilated cardiomyopathy but no skeletal muscle symptom
スポンサーリンク
概要
著者
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NONAKA Ikuya
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurolo
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GOTO Yu-ichi
Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, Nati
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Goto Yu-ichi
National Institute Of Neuroscience National Center Of Neurology And Psychiatry
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Hayashi Y
Department Of Neuromuscular Research National Institute Of Neuroscience National Center Of Neurology
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Goto Yu-ichi
Department Of Mental Retardation And Birth Defect Research National Institute Of Neuroscience Nation
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Uemura Tetsuya
Tsuruoka Kyoritsu Hospital Tsuroka
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HAYASHI Yukiko
National Institute of Neuroscience, National Center of Neurology and Psychiatry
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Goto Yu-ichi
Department Of Child Neurology National Center Hospital For Mental Nervous And Musculardisorders Nati
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KINOSHITA Hirotoshi
Department of Child Neurology,National Center Hospital for Mental,Nervous and MuscularDisorders,Nati
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ISHIKAWA Mituru
Tsuruoka Kyoritsu Hospital, Tsuroka
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MATSUMOTO Kouichi
Tsuruoka Kyoritsu Hospital, Tsuroka
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ARAHATA Kiichi
National Institute of Neuroscience,NCNP
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Matsumoto Kouichi
Tsuruoka Kyoritsu Hospital Tsuroka
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Nonaka Ikuya
Department Of Child Neurology National Center Hospital For Mental Mervous And Muscular Disorders Ncn
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Nonaka Ikuya
National Institute Of Neuroscience National Center Of Neurology And Psychiatry
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Hayashi Yukiko
National Institute Of Neuroscience National Center Of Neurology And Psychiatry
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Arahata Kiichi
National Institute Of Neuroscience Ncnp
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Kinoshita Hirotoshi
Department Of Child Neurology National Center Hospital For Mental Nervous And Muscular Disorders Nat
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Ishikawa Mituru
Tsuruoka Kyoritsu Hospital Tsuroka
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Nonaka Ikuya
Department Of Neuromuscular Research National Institute Of Neuroscience National Center Of Neurology
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Goto Yu-ichi
Department Of Mental Retardation And Birth Defect Research National Institute Of Neuroscience Nation
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Hayashi Yukiko
Department Of Neuromuscular Research National Institute Of Neuroscience National Center Of Neurology
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Nonaka Ikuya
Department Of Ultrastructural Research National Institute Of Neuroscience National Center Of Neurolo
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HAYASHI Yukiko
National Institute of Neuroscience
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ARAHATA Kiichi
National Center of Neurology and Psychiatry, National Institute of Neuroscience
関連論文
- A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI
- Mutational Analysis of Fukutin Gene in Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy(Molecular Cardiology)
- Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions
- A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I
- Characterization of lobulated fibers in limb girdle muscular dystrophy type 2A by gene expression profiling
- Subcellular Localization of Fukutin and Fukutin-Related Protein in Muscle Cells
- Localization of Calpain 3 in Human Skeletal Muscle and Its Alteration in Limb-Girdle Muscular Dystrophy 2A Muscle
- Severe infantile congenital myopathy with nemaline and cytoplasmic bodies: a case report
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- Distal myopathy with rimmed vacuoles in a case of opercular syndrome
- Early onset distal muscular dystrophy
- A carrier of Duchenne muscular dystrophy with dilated cardiomyopathy but no skeletal muscle symptom
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- Functional and Morphological Abnormalities of Mitochondria in Human Cells Containing Mitochondrial DNA with Pathogenic Point Mutations in tRNA Genes
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- Leigh syndrome caused by mitochondrial DNA G13513A mutation : frequency and clinical features in Japan
- The First Molecular Evidence That Autophagy Relates Rimmed Vacuole Formation in Chloroquine Myopathy
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- Progressive myoclonus epilepsy with unusual neuropathologic features
- A follow-up study of congenital non-progressive myopathies
- Delayed gyration with pontocerebellar hypoplasia type 1
- Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia
- Intestinal pseudo-obstruction in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) associated with phenytoin therapy
- Abnormal glucose metabolism in aromatic L-amino acid decarboxylase deficiency
- Mitochondrial encephalomyopathy
- Bilateral occipital cortical dysplasia and white matter T2 hyperintensity with mild non-specific myopathy : Two sibling cases
- Tourette's syndrome in Taiwan : an epidemiological study of tic disorders in an elementary school at Taipei County
- Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
- Laminin in Animal Models for Muscular Dystrophy Defect of Laminin M in Skeletal and Cardiac Muscles and Peripheral Nerve of the Homozygous Dystrophic dy/dy Mice
- A case of intraneural perineurioma presenting with monomelic atrophy in a child
- Central core disease and congenital neuromuscular disease with uniform type 1 fibers in one family
- Molecular genetic analysis of dysferlin in Japanese patients with Miyoshi myopathy
- Congenital familial myopathy with type 2 fiber hypoplasia and type 1 fiber predominance
- Co-existence of nemaline and cytoplasmic bodies in muscle of an infant with nemaline myopathy
- The significance of type 1 fiber atrophy (hypotrophy) in childhood neuromuscular disorders
- Merosin-negative non-Fukuyama-type congenital muscular dystrophy: a case report
- Mitochondrial Encephalomyopathy with Elderly Onset of Stroke-Like Episodes
- Myopathy and neurogenic muscular atrophy in unexpected cardiopulmonary arrest
- Mitochondrial Encephalomyopathy Associated with Diabetes Mellitus, Cataract, and Corpus Callosum Atrophy
- Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis
- Profiles of blood biomarkers in alternating hemiplegia of childhood-Increased MMP-9 and decreased substance P indicates its pathophysiology
- A case of congenital axonal neuropathy associated with West syndrome
- Immunostaining of Dystrophin and Utrophin in Skeletal Muscle of Dystrophinopathies.
- Negative immunostaining of Duchenne muscular dystrophy(DMD) and mdx muscle surface membrane with antibody against synthetic peptide fragment predicted from DMD cDNA.
- Distal Myopathy in Multi-minicore Disease
- A Dystrophin Homologue on the Surface Membrane of Embryonic and Denervated mdx Mouse Muscle Fibers.
- Expression of ARPP-16/19 in Rat Denervated Skeletal Muscle
- The First Molecular Evidence That Autophagy Relates Rimmed Vacuole Formation in Chloroquine Myopathy.