The Myotubular and Centronuclear Myopathy Patient Registry (‘MTM and CNM Registry’) is an international database specific to these conditions, operated by Newcastle University in the UK as part of the
Background: Selenoprotein N-related myopathies (SEPN1-RMs) are a subset of congenital myopathies caused by mutations of Selenoprotein N gene (SELENON or SEPN1). Clinical phenotype is considered as hig
The extended data includes: Team members listed, participant information sheets, consent forms and a list of attributes to be included in each Treatment Preference Methods.
The aim of this study was to determine the clinimetric properties, i.e., reliability, validity and responsiveness of an instrumented strength assessment in typically developing (TD) children and child
