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Neurogenetics ; 3(2): 107-9, 2001 Mar.
Article in English | MEDLINE | ID: mdl-11354824

ABSTRACT

Charcot-Marie-Tooth type 4B (CMT4B), an autosomal recessive demyelinating neuropathy characterized by focally folded myelin sheaths in the peripheral nerve, has been associated with mutations in the gene encoding myotubularin-related protein 2, MTMR2, on chromosome 11q22. To investigate whether mutations in MTMR2 may also cause different forms of CMT, we screened 183 unrelated patients with a broad spectrum of CMT and related neuropathies using denaturing high-performance liquid chromatography. We identified four frequent and three rare exonic variants; two of the rare variants were identified in two unrelated patients with congenital hypomyelinating neuropathy and not in the normal controls. Our results suggest that loss-of-function mutations in MTMR2 are preferentially associated with the CMT4B phenotype.


Subject(s)
Charcot-Marie-Tooth Disease/genetics , Chromosomes, Human, Pair 11 , Mutation , Protein Tyrosine Phosphatases/genetics , Amino Acid Substitution , Charcot-Marie-Tooth Disease/classification , Chromatography, High Pressure Liquid , Chromosome Mapping , Exons , Genetic Variation , Homozygote , Humans , Point Mutation , Polymerase Chain Reaction , Protein Isoforms/chemistry , Protein Isoforms/genetics , Protein Tyrosine Phosphatases/chemistry , Protein Tyrosine Phosphatases, Non-Receptor
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