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BACON , Chelsea J.

Last name: BACON

First name: Chelsea J.

2019 (v1)

Journal article

Metadata-only

A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)

Pareyson, Davide Stojkovic, Tanya Reilly, Mary M.

Objective Charcot-Marie-Tooth (CMT) disease 4B1 and 4B2 (CMT4B1/B2) are characterized by recessive inheritance, early onset, severe course, slowed nerve conduction, and myelin outfoldings. CMT4B3 shows a more heterogeneous phenotype. All are associated with myotubularin-related protein (MTMR) mutations. We conducted a multicenter, retrospective...

Uploaded on: December 4, 2022