Associated Papers
Myosin inhibition partially rescues the myofiber proteome in X-linked myotubular myopathy.
Gerlach Melhedegaard E et al.
Jci Insight, 2025
Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases.
Ahn JH et al.
Npj Genomic Medicine, 2024
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.
de Feraudy Y et al.
Genome Medicine, 2024
Prognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool.
Kušíková K et al.
Genes, 2023
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene.
Chausova P et al.
International Journal of Molecular Sciences, 2023
Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy.
Bosco L et al.
International Journal of Molecular Sciences, 2022
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.
Cerino M et al.
Genes, 2022
An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.
Juntas Morales R et al.
Genes, 2021
Peliosis Hepatis in a Child with X-Linked Myotubular Myopathy Treated with Living-Donor Liver Transplant: A Case Report.
Omata K et al.
Transplantation Proceedings, 2021
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Wright CF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Diagnosing X-linked Myotubular Myopathy - A German 20-year Follow Up Experience.
Gangfuss A et al.
Journal of Neuromuscular Diseases, 2021
Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders.
Nishikawa A et al.
Journal of Medical Genetics, 2017
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.
Fattori F et al.
Journal of Neurology, 2015
Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature.
Waisayarat J et al.
Diagnostic Pathology, 2015
Genome-wide discovery of human splicing branchpoints.
Mercer TR et al.
Genome Research, 2015
Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.
Oliveira J et al.
European Journal of Human Genetics : Ejhg, 2013
Clinical utility gene card for: Centronuclear and myotubular myopathies.
Biancalana V et al.
European Journal of Human Genetics : Ejhg, 2012
Next generation sequencing for molecular diagnosis of neuromuscular diseases.
Vasli N et al.
Acta Neuropathologica, 2012
Mutation studies in X-linked myotubular myopathy in three Indian families.
Bijarnia S et al.
Indian Journal of Pediatrics, 2010
Centronuclear (myotubular) myopathy.
Jungbluth H et al.
Orphanet Journal of Rare Diseases, 2008
X-linked myotubular myopathy and chylothorax.
Smets K
Neuromuscular Disorders : Nmd, 2008
[Unilateral presentation of X-linked myotubular myopathy (XLMTM) in two out of three female carriers in a family with no affected male].
Drouet A et al.
Revue Neurologique, 2008
X-linked myotubular and centronuclear myopathies.
Pierson CR et al.
Journal of Neuropathology and Experimental Neurology, 2005
Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism.
Tsai TC et al.
Neuromuscular Disorders : Nmd, 2005
118th ENMC International Workshop on Advances in Myotubular Myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy).
Bertini E et al.
Neuromuscular Disorders : Nmd, 2004
Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.
Biancalana V et al.
Human Genetics, 2003
Characterization of mutations in fifty North American patients with X-linked myotubular myopathy.
Herman GE et al.
Human Mutation, 2002
MTM1 mutations in X-linked myotubular myopathy.
Laporte J et al.
Human Mutation, 2000
Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy.
Buj-Bello A et al.
Human Mutation, 1999
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.
Savarese M et al.
Neuromuscular Disorders : Nmd, 0