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 ?

Myonexus' pipeline also includes MYO-102, a gene therapy candidate for LGMD2D (alpha-sarcoglycanopathy) currently completing a Phase 1/2a clinical trial, MYO-201, a gene therapy candidate for LGMD2B (dysferlinopathy) currently in Phase 1, MYO-103, a preclinical gene therapy candidate for LGMD2C (gamma-sarcoglycanopathy), and MYO-301, a preclinical gene therapy candidate for LGMD2L (anoctamin 5).

The foundation also assists patients in receiving a confirmed genetic diagnosis of dysferlinopathy, and maintains a patient registry for the disease.

Myonexus Therapeutics Secures USD 2.5m Seed Financing to Clinically Advance Limb-Girdle Muscular Dystrophy Gene Therapies

Involvement of oxidative stress, nuclear factor kappa B and the ubiquitin proteasomal pathway in dysferlinopathy. Life Sci 2014; 108: 54-61, doi: 10.1016/j.lfs.2014.05.005.

Roles of monocyte chemotactic protein 1 and nuclear factor-[kappa]B in immune response to spinal tuberculosis in a New Zealand white rabbit model

Dysferlinopathy is a rare genetic disease, with an incidence rate estimated to be between 1 in 100,000 and 1 in 200,000 [1].

Serum Cytokine Profile in a Patient Diagnosed with Dysferlinopathy

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.

Mechanisms of myofascial pain

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. Financial details were not disclosed.

Santaris, Shire extend alliance: Adimab signs agreements with Celgene and Innovent Biologics

Finally, a recent study investigated the role of lymphocytes in muscle dysferlinopathy using Scid/A/J transgenic mice and showed that the absence of T and B lymphocytes resulted in an improvement of muscle regeneration [77].

Macrophage plasticity and the role of inflammation in skeletal muscle repair

"We have shown that AAV5-dysferlin delivery is a very promising therapeutic approach that could restore functional deficits in dysferlinopathy patients," she added.

New gene transfer strategy shows promise to treat muscular dystrophies

Heterogeneous characteristics of MRI changes of thigh muscles in patients with dysferlinopathy. Muscle Nerve 2016;54:1072-9.

Muscle Magnetic Resonance Imaging for the Differentiation of Multiple Acyl-CoA Dehydrogenase Deficiency and Immune-mediated Necrotizing Myopathy

For instance, the presence of endomysial and perivascular inflammation is an established hallmark of dysferlinopathy [60].

Cytokines and chemokines as regulators of skeletal muscle inflammation: presenting the case of Duchenne muscular dystrophy

Dysferlin gene mutation spectrum in a large cohort of Chinese patients with dysferlinopathy. Chin Med J 2016;129:2287-93.

A De novo Mutation in Dystrophin Causing Muscular Dystrophy in a Female Patient

Background: Dysferlinopathy is caused by mutations in the dysferlin (DYSF) gene.

Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy

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