Associated Papers
Diagnosing X-linked Myotubular Myopathy - A German 20-year Follow Up Experience.
Gangfuss A et al.
Journal of Neuromuscular Diseases, 2021
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
Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy.
Pierson CR et al.
Neuromuscular Disorders : Nmd, 2007
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