The Clinical Outcome Study for dysferlinopathy

Jan 1, 2016·
Mbbs Elizabeth Harris
,
C. Bladen
,
PhD Anna Mayhew
,
PT Meredith James
,
MSc Karen Bettinson
,
MBBChir Ursula Moore
,
PhD Fiona E. Smith
,
PhD Laura Rufibach
,
PhD Avital Cnaan
,
MD Diana X. Bharucha-Goebel
,
A. M. Blamire
,
MD Elena Bravver
,
MD Pierre G. Carlier
,
P. Day
,
P. Eagle
,
P. Pt
,
M. Harms
,
Md K Jones
,
MD Jerry R. Mendell
,
M. Mori-Yoshimura
,
MD Carmen Paradas
,
Priya Md
,
PhDHyunSunJeon Md
,
MD Emmanuelle Salort-Campana
,
MD Olivia Schreiber-Katz
,
MD Claudio Semplicini
,
MD Simone Spuler
,
Malfait F. The
,
John Walton Muscular Dystrophy Research Centre E.H
,
K. Bushby
,
MD Tanya Stojkovic
,
MD Volker Straub
,
MD PhD Shin ’ Ich Takeda
,
MD Carolina Tesi Rocha
,
MD MA M. C. Walter
· 0 min read
Abstract
Objective:To describe the baseline clinical and functional characteristics of an international cohort of 193 patients with dysferlinopathy. Methods:The Clinical Outcome Study for dysferlinopathy (COS) is an international multicenter study of this disease, evaluating patients with genetically confirmed dysferlinopathy over 3 years. We present a cross-sectional analysis of 193 patients derived from their baseline clinical and functional assessments. Results:There is a high degree of variability in disease onset, pattern of weakness, and rate of progression. No factor, such as mutation class, pro…
Type
Publication
Neurology: Genetics