SHY M. E.

Background and ObjectivesThe Charcot-Marie-Tooth Examination Score (CMTES) has been used since 2005 in clinics to measure impairment in patients with CMT and has provided natural history data for patients with CMT1A, CMT1B, CMTX1, CMT2A, and many other subtypes. However, the CMTES requires an in-person visit, and many individuals are unable to...

Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy with an estimated prevalence of 1 person affected on 2500. Frequent symptoms include distal weakness and muscle wasting, sensory loss, reduced deep tendon reflexes, and skeletal deformities, such as hammer toes and pes cavus. CMT is a progressive disease and patients'...

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Background: Myelin protein zero (MPZ) is the mai structural protein of peripheral myelin, costituiting approximately the 50% of total myelin proteins. MPZ is a single transmembrane glycoprotein, belonging to the immunoglobulin superfamily and is supposed to play an important role in myelin compaction, actins as an adhesion molecule. Missense...

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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,...