Regular ArticleIdentification of a New Locus for Autosomal Recessive Charcot–Marie–Tooth Disease with Focally Folded Myelin on Chromosome 11p15
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Identification of A Novel SBF2 Frameshift Mutation in Charcot-Marie-Tooth Disease Type 4B2 Using Whole-exome Sequencing
2014, Genomics, Proteomics and BioinformaticsCitation Excerpt :However, most of these subtypes can only be differentiated through genetic tests. For instance, CMT4B1 is caused by mutations in the gene encoding MTMR2 on chromosome 11q22 [23–25], and mutations in the SBF2 gene have been identified in CMT4B2 on chromosome 11p15 [8,26]. At present, there are still no effective cures for CMT4; however, we can administer symptomatic treatments by the neurologist, physiatrist and orthopedic surgeon, such as special shoes for foot drop correction and walking assistance, surgery for severe pes cavus, exercise for recovery, and symptomatic treatments for pain, depression and other symptoms [4,27–29].
Charcot-Marie-Tooth disease
2009, Presse MedicaleMutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H
2007, American Journal of Human GeneticsCitation Excerpt :We previously published the localization of CMT4H from one Lebanese family and one Algerian family with CMT4H.26
The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease
2005, Journal of Biological ChemistryCitation Excerpt :Recently, genetic studies have identified MTMR2 and MTMR13 as genes mutated in a distinctive form of Charcot-Marie-Tooth peripheral neuropathy (7-11). CMT4B1 (MTMR2) and CMT4B2 (MTMR13) are autosomal recessive forms of demyelinating CMT, distinguished from other forms by the presence of a distinctive focal out-looping of myelin within peripheral nerves (4, 6, 7). These genetic findings, combined with the growing awareness that active MTMR phosphatases may be regulated via the association of inactive MTMR pseudophosphatases (26, 32, 52, 53), led us to investigate whether the MTMR2 and MTMR13 proteins might physically associate.
Autosomal Recessive Hereditary Motor and Sensory Neuropathies
2005, Peripheral Neuropathy: 2-Volume Set with Expert Consult Basic
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To whom correspondence should be addressed at Division of Neurology, Department of Medicine, Duke University Medical Center, Box 2903, Durham, NC 27710-2903. Telephone: (919) 681-5696. Fax: (919) 681-7894. E-mail: [email protected].