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

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

Research output: Contribution to journalArticle

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).

Original languageEnglish
Pages (from-to)e61
JournalNeurology. Genetics
Volume2
Issue number2
DOIs
Publication statusPublished - Apr 2016

Keywords

  • Journal Article

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