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"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies
Marta Romani1, Cybel Mehawej1, Tommaso Mazza1
1CSS-Mendel Institute (M.R., T.M., E.M.V.), IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy; Division of Immunology (C.M.), Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA; Institut Jérôme Lejeune (A.M.), Paris, France; and Section of Neurosciences (E.M.V.), Department of Medicine and Surgery, University of Salerno, Salerno, Italy.
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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