A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I
スポンサーリンク
概要
- 論文の詳細を見る
- 2007-05-01
著者
-
Nishino Ichizo
Department Of Neuromuscular Research National Institute Of Neuroscience National Center Of Neurology
-
MURAKAMI Terumi
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurolo
-
HAYASHI Yukiko
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurolo
-
NONAKA Ikuya
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurolo
-
LIN Yi-Ching
Departments of Pediatrics and Laboratory Medicine, Kaohsiung Medical University Hospital, Kaohsiung
-
YUO Chung-Yee
Department of Biomedical Science & Environmental Biology, College of Life Science, Kaohsiung Medical
-
JONG Yuh-Jyh
Departments of Pediatrics and Laboratory Medicine, Kaohsiung Medical University Hospital, Kaohsiung
-
Hayashi Y
Department Of Neuromuscular Research National Institute Of Neuroscience National Center Of Neurology
-
Hayashi Yukiko
国立精神･神経センター神経研究所 疾病研究第一部
-
Nonaka Ikuya
Department Of Child Neurology National Center Hospital For Mental Mervous And Muscular Disorders Ncn
-
Nonaka Ikuya
National Institute Of Neuroscience National Center Of Neurology And Psychiatry
-
Hayashi Yukiko
National Institute Of Neuroscience National Center Of Neurology And Psychiatry
-
Jong Yuh-jyh
Departments Of Pediatrics And Laboratory Medicine Kaohsiung Medical University Hospital Kaohsiung Me
-
Lin Yi-ching
Departments Of Pediatrics And Laboratory Medicine Kaohsiung Medical University Hospital Kaohsiung Me
-
Yuo Chung-yee
Department Of Biomedical Science & Environmental Biology College Of Life Science Kaohsiung Medic
-
Nishino Ichizo
Department Of Neuromuscular Disorders National Institute Of Neuroscience National Center Of Neurolog
-
Murakami Terumi
Department Of Neuromuscular Research National Institute Of Neuroscience National Center Of Neurology
-
Hayashi Yukiko
Department Of Internal Medicine Asama General Hospital
-
Jong Yuh-jyh
Department Of Pediatric Kaohsiung Medical University Hospital And Kaohsiung Municipal Hsiao-kang Hos
-
Nishino Ichizo
Department Of Neuromuscular Research National Institute Of Neuroscience National Center Of Neurology
-
Nonaka Ikuya
Department Of Neuromuscular Research National Institute Of Neuroscience National Center Of Neurology
-
Hayashi Yukiko
Department Of Neuromuscular Research National Institute Of Neuroscience National Center Of Neurology
-
Nonaka Ikuya
Department Of Ultrastructural Research National Institute Of Neuroscience National Center Of Neurolo
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
- A new clinicopathological entity of IgG4-related autoimmune disease
- PJ-442 Fukutin Gene Mutations Cause Dilated Cardiomyopathy with Minimal Muscle Weakness(Cardiomyopathy, basic/clinical-6, The 71st Annual Scientific Meeting of the Japanese Circulation Society)
- Allelic Loss of 14q and 22q, NF2 Mutation, and Genetic Instability Occur Independently of c-kit Mutation in Gastrointestinal Stromal Tumor
- MEN1 gene mutations in sporadic neuroendocrine tumors of foregut derivation
- Polymerase chain reaction screening of immunoglobulin heavy chain and T cell receptor γ gene rearrangements: A practical approach to molecular DNA analysis of non-Hodgkin's lymphoma in a surgical pathology laboratory
- Pyothorax-associated lymphoma : Development of Epstein-Barr virus-associated lymphoma within the inflammatory cavity
- Intracranial meningioma masquerading as a primary pleuropulmonary tumor
- Expression and Antigenicity of Human Herpesvirus 8 Encoded ORF59 Protein in AIDS-Associated Kaposi's Sarcoma
- Severe infantile congenital myopathy with nemaline and cytoplasmic bodies: a case report
- Dysferlinopathy associated with rigid spine syndrome
- Distal myopathy with rimmed vacuoles in a case of opercular syndrome
- Ecthyma gangrenosum combined with multiple perforations of the small intestine associated with Pseudomonas aeruginosa
- Novel LAMP-2 Mutation in a Family With Danon Disease Presenting With Hypertrophic Cardiomyopathy
- K-ras mutation in the major duodenal papilla and gastric and colonic mucosa in patients with autoimmune pancreatitis
- A carrier of Duchenne muscular dystrophy with dilated cardiomyopathy but no skeletal muscle symptom
- Treatment of mitochondrial encephalomyopathy with a combination of cytochrome C and vitamins B_1 and B_2
- Recurrent pain attacks in a 3-year-old patient with myoclonus epilepsy associated with ragged-red fibers(MERRF):a single-photon emission computed tomographic(SPECT)and electrophysiological study
- Long-term therapy with cytochrome c, flavin mononucleotide and thiamine diphosphate for a patient with Kearns-Sayre syndrome
- Functional and Morphological Abnormalities of Mitochondria in Human Cells Containing Mitochondrial DNA with Pathogenic Point Mutations in tRNA Genes
- Benefits of FK 506 for refractory eye symptoms in a young child with ocular myasthenia gravis
- A case of Walker-Warburg syndrome
- Dystrophin gene analysis on 130 patients with Duchenne muscular dystrophy with a special reference to muscle mRNA analysis
- A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy
- Suppression of plasma matrix metalloproteinase-9 following montelukast treatment in childhood asthma
- A Patient with mitochondrial myopathy associated with isolated succinate dehydrogenase deficiency
- Malignant hyperthermia susceptibility diagnosed with a family-specific ryanodine receptor gene type 1 mutation
- Two pathogenic point mutations exist in the authentic mitochondrial genome, not in the nuclear pseudogene
- Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications
- Early onset distal muscular dystrophy with normal dysferlin expression
- A case of congenital neuromuscular disease with uniform type 1 fibers
- Familial reducing body myopathy
- Denervation Enhances the Expression of SHPS-1 in Rat Skeletal Muscle
- Expression of ARPP-16/19 in Rat Denervated Skeletal Muscle
- 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
- Assessment of SMAD4, p53, and Ki-67 Alterations as a Predictor of Liver Metastasis in Human Colorectal Cancer
- Severe infantile myotubular myopathy with complete atrioventricular block
- PE-312 Clinical and Molecular Analyses of Nuclear Envelopathy(Cardiomyopathy, basic/clinical-5, The 71st Annual Scientific Meeting of the Japanese Circulation Society)
- A follow-up study of congenital non-progressive myopathies
- Montelukast decreased exhaled nitric oxide in children with perennial allergic rhinitis
- Gender differences in a clinic-referred sample of Taiwanese attention-deficit/hyperactivity disorder children
- Delayed gyration with pontocerebellar hypoplasia type 1
- Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia
- 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
- 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
- T-helper 1-related chemokines in the exacerbation of childhood asthma
- 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
- OJ-120 Clinical features of cardiac involvement in 51 patients with genetically-confirmed Danon disease(Cardiomyopathy, basic / clinical(02)(M),Oral Presentation (Japanese),The 72nd Annual Scientific Meeting of the Japanese Circulation Society)
- Functional analysis of ryanodine receptor type 1 p.R2508C mutation in exon 47
- Mitochondrial Encephalomyopathy with Elderly Onset of Stroke-Like Episodes
- Preschool children with autism spectrum disorders in Taiwan : follow-up of cognitive assessment to early school age
- Usefulness of the Combination of Pre- and Intraoperative Selective Intraarterial Calcium Injection to Detect Residual Insulinomas
- Myopathy and neurogenic muscular atrophy in unexpected cardiopulmonary arrest
- Mitochondrial Encephalomyopathy Associated with Diabetes Mellitus, Cataract, and Corpus Callosum Atrophy
- Novel Mutations in the Gene Encoding Acid .ALPHA.-1,4-glucosidase in a Patient with Late-onset Glycogen Storage Disease Type II (Pompe Disease) with Impaired Intelligence
- Myotonic dystrophy type 2 is rare in the Japanese population
- High-density CT of muscle and liver may allow early diagnosis of childhood-onset Pompe disease
- Close monitoring of initial enzyme replacement therapy in a patient with childhood-onset Pompe disease
- A case of congenital axonal neuropathy associated with West syndrome
- Severe muscle damage following viral infection in patients with Fukuyama congenital muscular dystrophy
- A Novel Mutation of the GAA Gene in a Patient with Adult-onset Pompe Disease Lacking a Disease-specific Pathology
- Expression of ARPP-16/19 in Rat Denervated Skeletal Muscle
- The First Molecular Evidence That Autophagy Relates Rimmed Vacuole Formation in Chloroquine Myopathy.