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

نویسندگان

  • Marta Romani
  • Cybel Mehawej
  • Tommaso Mazza
  • Andre Mégarbané
  • Enza Maria Valente
چکیده

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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عنوان ژورنال:

دوره 2  شماره 

صفحات  -

تاریخ انتشار 2016