Muscle fibre dysfunction in congenital myopathies
Research type
Research Study
Full title
Determining the contractile function of skeletal muscles fibres from patients with various congenital myopathies
IRAS ID
145990
Contact name
Julien Ochala
Contact email
Research summary
Congenital myopathies are disorders mainly characterized by muscle weakness. The understanding of this group of disorders has advanced in recent years through the identification of the causative mutations in genes encoding muscle proteins. Nevertheless, how these mutations lead to muscle weakness remain obscure, preventing the development of accurate treatments. Therefore, in the present laboratory-based work, we aim to clearly define the contractile dysfunction at the muscle fibre level. For that, we will use unique advanced biophysical assays and human frozen biopsy specimens from patients diagnosed with congenital myopathies.
REC name
North East - York Research Ethics Committee
REC reference
13/NE/0373
Date of REC Opinion
29 Jan 2014
REC opinion
Further Information Favourable Opinion