Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2
Copyright policy )Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2
A gene mutated in Charcot-Marie-Tooth disease type 4B (CMT4B), an autosomal recessive demyelinating neuropathy with myelin outfoldings, has been mapped on chromosome 11q22. Using a positional-cloning strategy, we identified in unrelated CMT4B patients mutations occurring in the gene MTMR2, encoding myotubularin-related protein-2, a dual specificity phosphatase (DSP).
- King Saud University Saudi Arabia
- National Research Council Sri Lanka
- University of Genoa Italy
- University of Calabria Italy
- National Research Council Italy
Alternative Splicing, DNA, Complementary, Charcot-Marie-Tooth Disease, Reverse Transcriptase Polymerase Chain Reaction, Chromosomes, Human, Pair 11, DNA Mutational Analysis, Mutation, Humans, Protein Tyrosine Phosphatases, Protein Tyrosine Phosphatases, Non-Receptor
Alternative Splicing, DNA, Complementary, Charcot-Marie-Tooth Disease, Reverse Transcriptase Polymerase Chain Reaction, Chromosomes, Human, Pair 11, DNA Mutational Analysis, Mutation, Humans, Protein Tyrosine Phosphatases, Protein Tyrosine Phosphatases, Non-Receptor
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