"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies.
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ABSTRACT:
SUBMITTER: Romani M
PROVIDER: S-EPMC4830194 | biostudies-other | 2016 Apr
REPOSITORIES: biostudies-other
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"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies.
Romani Marta M Mehawej Cybel C Mazza Tommaso T Mégarbané Andre A Valente Enza Maria EM
Neurology. Genetics 20160303 2
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). ...[more]
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