Article
MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy.
Neuromuscular disorders : NMD - 1 Oct 1998
Nishino I, Minami N, Kobayashi O, Ikezawa M, Goto Y, Arahata K, Nonaka I
Abstract excerpt
The severe infantile form of myotubular myopathy is a fatal muscle disease that predominantly affects male infants and is characterized by severe weakness and hypotonia from birth. X-linked myotubular myopathy was found to be associated with mutations in the MTM1 gene in Xq28 encoding the putativ...
Topics
- Child, Preschool
- DNA Mutational Analysis
- DNA Transposable Elements
- Dosage Compensation, Genetic
- Exons
- Female
- Genes
- Humans
- Infant
- Infant, Newborn
- Japan
- Male
- Microsatellite Repeats
- Muscular Diseases
- Mutation
- Point Mutation
- Polymorphism, Genetic
- Protein Tyrosine Phosphatases