A novel mutation (R271X) in the myotubularin gene causes a severe miotubular myopathy.

Abstract	The mutation is a C to T transition at nucleotide 811 of the MTM1 gene (OMIM 310400) leading to premature termination of translation at codon 271 of the myotubularin protein (R271X).
Authors	A De Luca, I Torrente, M Mangino, E Bertini, B Dallapiccola, G Novelli
Journal	Human heredity (Hum Hered) Vol. 49 Issue 1 Pg. 59-60 (Jan 1999) ISSN: 0001-5652 [Print] Switzerland
PMID	9858861 (Publication Type: Journal Article)
Chemical References	Protein Tyrosine Phosphatases Protein Tyrosine Phosphatases, Non-Receptor myotubularin
Topics	Adult Base Sequence Exons Haplotypes Humans Infant Male Molecular Sequence Data Muscular Diseases (genetics, pathology) Mutation Pedigree Polymerase Chain Reaction (methods) Polymorphism, Single-Stranded Conformational Protein Tyrosine Phosphatases (genetics) Protein Tyrosine Phosphatases, Non-Receptor

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