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

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.

Are electrophysiological features related to disability in patients with anti-MAG neuropathy?

Objectives: To explore clinical-neurophysiological correlations in anti-myelin-associated glycoprotein (anti-MAG) neuropathy.

Methods: Clinical and electrophysiological data of 42 patients with anti-MAG neuropathy were retrospectively analysed. Disability was evaluated using the Overall Neuropathy Limitation Scale (ONLS), motor impairment through MRC sum score and sensory deficiency through INCAT sensory score.

[Dysferlinopathy. Example of a new myopathy].

Over the past 10 years, the impact of modern microscopic pathology and molecular genetics on the knowledge of myopathies has been enormous. Dysferlinopathy is a good example. Dysferlin is a surface membrane protein without homology with known mammalian protein excepted otoferlin.