Gene symbol: MTM1. Disease: Myotubular myopathy.
All Children’s Hospital, Department of Pathology, 6th St. South, 801, 33701, Saint Petersburg, USA. muellert@allkids.org
O Thomas
OT
Mueller
D018389:Codon, Nonsense / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D020914:Myopathies, Structural, Congenital / Q000235:genetics*; D054558:Protein Tyrosine Phosphatases, Non-Receptor / Q000235:genetics*
D018389:Codon, Nonsense; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C099588:myotubularin