"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies

Marta Romani; Cybel Mehawej; Tommaso Mazza; Andre Mégarbané; Enza Maria Valente

doi:10.1212/NXG.0000000000000061

"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies

Neurol Genet. 2016 Mar 3;2(2):e61. doi: 10.1212/NXG.0000000000000061. eCollection 2016 Apr.

Authors

Marta Romani¹, Cybel Mehawej¹, Tommaso Mazza¹, Andre Mégarbané¹, Enza Maria Valente¹

Affiliation

¹ CSS-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).

Grants and funding

260888/ERC_/European Research Council/International