2016
DOI: 10.1212/nxg.0000000000000089
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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, p… Show more

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Cited by 74 publications
(111 citation statements)
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“…Korea (Shin et al, 2015), China (Jin et al, 2016;Xi et al, 2014), Iran (Fatehi et al, 2015), France (Krahn et al, 2009), as well as from an international multicenter study (Harris et al, 2016), demonstrating the genetic character in each population including the existence of have been reported to be located deep in intronic regions (Dominov et al, 2019). Hence, RNA analysis combined with genomic DNA will be needed to characterize undiagnosed cases.…”
Section: Discussionmentioning
confidence: 99%
“…Korea (Shin et al, 2015), China (Jin et al, 2016;Xi et al, 2014), Iran (Fatehi et al, 2015), France (Krahn et al, 2009), as well as from an international multicenter study (Harris et al, 2016), demonstrating the genetic character in each population including the existence of have been reported to be located deep in intronic regions (Dominov et al, 2019). Hence, RNA analysis combined with genomic DNA will be needed to characterize undiagnosed cases.…”
Section: Discussionmentioning
confidence: 99%
“…Since a large percentage of patients with dysferlinopathies are known to have athletic prowess during the years prior to onset of muscle weakness, it is not uncommon for patients to exercise more, when they start developing symptoms (Harris et al. ; Moore et al. ; Jain Foundation Inc., ).…”
Section: Discussionmentioning
confidence: 99%
“…Our studies also serve to emphasize the value of muscle-injury-prevention in patients with dysferlinopathies. Since a large percentage of patients with dysferlinopathies are known to have athletic prowess during the years prior to onset of muscle weakness, it is not uncommon for patients to exercise more, when they start developing symptoms (Harris et al 2016;Moore et al 2018;Jain Foundation Inc., 2017). The evidence so far suggests that, like most other muscular dystrophies (other than some congenital muscular dystrophies), dysferlinopathies are progressive conditions, and therefore, cannot be reversed by exercise.…”
Section: Discussionmentioning
confidence: 99%
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