A novel mutation (R271X) in the myotubularin gene causes a severe miotubular myopathy.
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).
De Luca
A
A
Cattedra di Genetica Umana e Genetica Medica, Università di Roma Tor Vergata e Istituto CSS-Mendel, Roma, Italy.
Torrente
I
I
Mangino
M
M
Bertini
E
E
Dallapiccola
B
B
Novelli
G
G
D000328:Adult; D001483:Base Sequence; D005091:Exons; D006239:Haplotypes; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods; D018807:Polymorphism, Single-Stranded Conformational; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D054558:Protein Tyrosine Phosphatases, Non-Receptor
D017027:Protein Tyrosine Phosphatases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C099588:myotubularin