dysferlinopathy

dysferlinopathy

(dĭs-fĕr″lĭn-ŏp′ă-thē) [″ + ″]
Any form of muscular dystrophy caused by deficient expression of dysferlin. Dysferlinopathies tend to weaken proximal and distal muscles.
References in periodicals archive ?
The foundation also assists patients in receiving a confirmed genetic diagnosis of dysferlinopathy, and maintains a patient registry for the disease.
When in excess, X-ROS in skeletal muscle is maladaptive as shown in diseases such as Duchenne muscular dystrophy (DMD) and dysferlinopathy which both have altered calcium signaling as major mechanistic underpinnings.
Evotec AG and the Jain Foundation have extended and expanded their research collaboration using Evotec's assay development and screening capabilities to support the Jain Foundation's research efforts to find a cure for dysferlinopathy.
We have shown that AAV5-dysferlin delivery is a very promising therapeutic approach that could restore functional deficits in dysferlinopathy patients," she added.
The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B)
Dysferlin gene mutation spectrum in a large cohort of Chinese patients with dysferlinopathy.
Background: Dysferlinopathy is caused by mutations in the dysferlin (DYSF) gene.
Dysferlinopathy is a group of autosomal recessive muscular dystrophies caused by mutations in dysferlin( DYSF ) gene showing marked clinical heterogeneity.
Western blot analysis and immunohistochemistry are important tools in the initial diagnosis of primary dysferlinopathy due to their low cost and convenience in clinical practice.
To date, no more than 60 Chinese dysferlinopathy patients with genetic diagnoses had been reported.
Eighty-seven patients were included in this study based on the clinical suspicion of primary dysferlinopathy and absent/severely reduced dysferlin expression as evidenced by immunohistochemical analyses of muscle specimen.