Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2

• Published in: Nature genetics Vol. 25; no. 1; pp. 17 - 19
• Main Authors: Monaco, Anthony P, Bolino, Alessandra, Muglia, Maria, Conforti, Francesca Luisa, LeGuern, Eric, Salih, Mustafa A.M, Georgiou, Domna-Maria, Christodoulou, Kyproula, Hausmanowa-Petrusewicz, Irena, Mandich, Paola, Schenone, Angelo, Gambardella, Antonio, Bono, Franco, Quattrone, Aldo, Devoto, Marcella
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group 01.05.2000
• Subjects: Alternative Splicing; Amino acids; Aquaporins; Biological and medical sciences; Blood; Cataracts; Causes of; Charcot-Marie-Tooth disease; Charcot-Marie-Tooth Disease - enzymology; Charcot-Marie-Tooth Disease - etiology; Charcot-Marie-Tooth Disease - genetics; chromosome 11; Chromosomes; Chromosomes, Human, Pair 11 - genetics; Cloning; CMT4B gene; Congenital diseases; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; DNA Mutational Analysis; DNA, Complementary - isolation & purification; Gene mutations; Genes; Genetic aspects; Humans; Medical sciences; MTMR2 gene; Mutation; Mutation - genetics; myotubularin-related protein 2; Neurology; Physiological aspects; Protein Tyrosine Phosphatases - genetics; Protein Tyrosine Phosphatases, Non-Receptor; Proteins; Reverse Transcriptase Polymerase Chain Reaction; Italy; United Kingdom > UK; Genetic mapping; Human; Neuromuscular diseases; Nervous system diseases; Nucleotide sequence; Family study; Chromosome C11; Protein; Genetic disease; Cell line; Gene; Charcot Marie Tooth disease; Central nervous system disease; Myotubular myopathy; Degenerative disease; Mutation; Spinal cord disease; Lymphoblastoid cell
• ISSN: 1061-4036; 1546-1718
• DOI: 10.1038/75542

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).