Congenital myopathies are a group of inherited muscle disorders that typically manifest at birth or in early childhood, leading to muscle weakness and other complications. One of the key genetic ...

Mackenzie, who has Congenital Myopathy, was granted a Magical Dream by the foundation, which specializes in fulfilling the wishes of children with severe chronic illnesses and conditions.

Myopathic (myo = muscle, pathy = disease) conditions can include polymyositis, dermatomyositis, inclusion body myositis, and various myopathies due to metabolic, congenital, and endocrine causes.

Critical illness polyneuropathy (CIP) and critical illness myopathy (CIM) are major complications that occur in severely ill patients who require intensive care treatment. CIP and CIM affect the ...

in particular muscular dystrophies and congenital myopathies. Identification of novel disease genes will improve diagnosis. In vitro and in vivo models are used to investigate the consequences of the ...

Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, UK Correspondence to: Dr Anne Lampe Institute of Human Genetics, University of Newcastle upon Tyne, International ...

Other AAV-based gene therapies have also run into problems with liver side effects, including Astellas' X-linked myotubular myopathy therapy ... pigmentosa and Leber congenital amaurosis ...

There are a wide variety of neurological diseases affecting the brain and nervous system. Understanding the specifics can help you navigate diagnostic tests and choose the best course of treatment.

It is also under development for the treatment of myasthenia gravis, primary membranous nephropathy, idiopathic inflammatory myopathy (IIM), anti-neutrophil cytoplasmic antibody ... The company’s ...

It is also under development for the treatment of myasthenia gravis, primary membranous nephropathy, idiopathic inflammatory myopathy (IIM), anti-neutrophil cytoplasmic antibody ... The company’s ...

Rates of nearsightedness, or myopia, are skyrocketing in kids—and scientists say it has to do with how little time they’re spending outdoors. Here’s why it’s so good for your vision ...