Publication: “Fork and bracket” syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies
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Date
2016
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Wolters Kluwer
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Romani, Marta, Cybel Mehawej, Tommaso Mazza, Andre Mégarbané, and Enza Maria Valente. 2016. ““Fork and bracket” syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies.” Neurology: Genetics 2 (2): e61. doi:10.1212/NXG.0000000000000061. http://dx.doi.org/10.1212/NXG.0000000000000061.
Abstract
Charcot-Marie-Tooth neuropathy type 4 (CMT4) comprises a large group of genetically heterogeneous progressive sensory motor neuropathies characterized by autosomal recessive inheritance. Among these, CMT4B includes 3 forms related to genes of the myotubularin family, namely CMT4B1 (MTMR2), CMT4B2 (MTMR13/SBF2), and CMT4B3 (MTMR5/SBF1).
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