Associated Papers
Using exome sequencing to decipher family history in a healthy individual: Comparison of pathogenic and population MTM1 variants.
Penon M et al.
Molecular Genetics & Genomic Medicine, 2018
30047259 (PubMed )
Supplement: MGG3-6-722-s002.xlsx › Helices_and_beta_sheets_clinvar
A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic Levels.
Abath Neto O et al.
Pediatric Neurology, 2016
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy.
Bevilacqua JA et al.
Acta Neuropathologica, 2009
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.
Savarese M et al.
Neuromuscular Disorders : Nmd, 0
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