The Clinical Outcome Study for dysferlinopathy: An international multicenter study.

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, protein expression, or age at onset, accounted for this variability. Among patients with clinical diagnoses of Miyoshi myopathy or limb-girdle muscular dystrophy, clinical presentat

SUBMITTER: Harris E 

PROVIDER: S-EPMC4994875 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature