"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy.
about
Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species ComparisonsCongenital myopathies: an updateApproach to the diagnosis of congenital myopathiesDynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells.MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers.Clinical phenotype of X-linked myotubular myopathy in Labrador Retriever puppies.X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 geneModeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotypeClinical utility gene card for: Centronuclear and myotubular myopathies.Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohortEnzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy.Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.Extensive morphological and immunohistochemical characterization in myotubular myopathy.T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphataseClinical and Pathological Features of Korean Patients with DNM2-Related Centronuclear Myopathy.Gene therapy in monogenic congenital myopathies.Myopathology in times of modern imaging.Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation.A rare case of centronuclear myopathy with DNM2 mutation: genotype-phenotype correlation.Raptor ablation in skeletal muscle decreases Cav1.1 expression and affects the function of the excitation-contraction coupling supramolecular complex.Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutationCentronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization.Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.Congenital myopathies: clinical phenotypes and new diagnostic tools.Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1.Severe asymmetric muscle weakness revealing glycogenin-1 polyglucosan body myopathy.Intravenous Administration of a MTMR2-Encoding AAV Vector Ameliorates the Phenotype of Myotubular Myopathy in Mice.Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathiesMyotubularins and associated neuromuscular diseasesTamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy
P2860
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P2860
"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh
2008年學術文章
@zh-hant
name
"Necklace" fibers, a new histo ...... elated centronuclear myopathy.
@en
"Necklace" fibers, a new histo ...... elated centronuclear myopathy.
@nl
type
label
"Necklace" fibers, a new histo ...... elated centronuclear myopathy.
@en
"Necklace" fibers, a new histo ...... elated centronuclear myopathy.
@nl
prefLabel
"Necklace" fibers, a new histo ...... elated centronuclear myopathy.
@en
"Necklace" fibers, a new histo ...... elated centronuclear myopathy.
@nl
P2093
P50
P1476
"Necklace" fibers, a new histo ...... elated centronuclear myopathy.
@en
P2093
Anders Oldfors
Bruno Eymard
Emmanuelle Lacène
Gisela Stoltenburg
Guy Brochier
Kristl G Claeys
Linda Manéré
Michel Fardeau
Norma Beatriz Romero
Pascal Laforêt
P2888
P304
P356
10.1007/S00401-008-0472-1
P577
2008-12-16T00:00:00Z