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.; Leonard‐Louis, Sarah; Laurà, Matilde; Blake, Julian; Parman, Yesim; Battaloglu, Esra; Tazir, Meriem; Bellatache, Mounia; Bonello‐Palot, Nathalie; Lévy, Nicolas; et al. (Annals of neurology, 2019)
Keywords: Adolescent; Adult; Age; Charcot-Marie-Tooth disease; Charcot-Marie-Tooth Disease - diagnosis; Charcot-Marie-Tooth Disease - genetics; Child; Child, Preschool; Female; Glaucoma; Heredity; Humans; Male; Medical research; Middle Aged; Muscles; Mutation; Mutation - genetics; Myelin; Nerve conduction; Neuropathy; Patients; Phenotypes; Protein Tyrosine Phosphatases, Non-Receptor - genetics; Proteins; Regression analysis; Retrospective Studies; Wheelchairs; Young Adult