10], In general, muscle MRI shows typical changes in similar muscle diseases, such as Duchenne muscular dystrophy  and collagen VI-related myopathies
A systematic review of adult onset clinically amyopathic dermatomyositis (Dermatomyositis sine myositis): a missing link within the spectrum of the idiopathic inflammatory myopathies
The company's first drug discovery program focuses on centronuclear myopathies
, a rare debilitating disease affecting children and young adults.
Idiopathic inflammatory myopathies
(IIMs) is a heterogeneous group of autoimmune myopathies
, characterized by proximal muscle weakness and inflammation of muscles and other organs.
However, mitochondrial myopathies
are considered to be genetic defects that impair the synthesis, assembly, or maintenance of ETC components and involve primary mtDNA mutations as well as nuclear mutations that disrupt the replication of mtDNA, synthesis of ETC components, or mitochondrial protein synthesis (Sharp and Haller 2014).
Resolaris is being developed as a potential first-in-class intravenous protein therapeutic for the treatment of rare myopathies
with an immune component.
Nonaka from Japan talked about Major Congenital Myopathies
based on pathological findings.
Genetic risk factors associated with lipid- lowering drug-induced myopathies
Rituximab in refractory idiopathic inflammatory myopathies
and antisynthetase syndrome: personal experience and review of the literature.
OUR AUCKLAND University of Technology (AUT) research team is embarking on a national study to find out how many people are affected by genetic muscle disorders, including the muscular dystrophies, congenital myopathy, myotonia congenital, paramyotonia congenita, central core disease, Pompe disease, nemaline, myotubular and GNE myopathies
, and periodic paralysis.
In the realm of the 'metabolic' myopathies
, it is important to rule out hypokalaemia, hypo- and hyper-calcaemia, osteomalacia and Cushing's syndrome.
Great Ormond Street Hospital NHS Foundation Trust (GOSH) requires a comprehensive genetic testing service in support of the National Specialised Commissioning Team (formally National Commissioning Group ) for the Dubowitz Neuromuscular Centre (DNC) Congenital Muscular Dystrophies and Congenital Myopathies