Miyoshi myopathy (MM) is an adult onset, recessive inherited distal muscular dystrophy that we have mapped to human chromosome 2p13. We recently constructed a 3-Mb P1-derived artificial chromosome ...

Within this broad framework, the individual disease entities that are discussed in more detail include neuromuscular complications of COVID-19, supervillin-deficient myopathy, 19p13.3-linked distal ...

The muscle disease Laing early-onset distal myopathy is caused by an inherited mutation in a muscle protein, myosin, that normally contributes to muscle contraction. The disease often appears at a ...

A drug to treat distal myopathy — a rare disorder characterized by progressive weakness of the distal muscles of the hands and feet, with patients losing the ability to walk in roughly 10 years ...

Distal myopathy with rimmed vacuoles, or GNE myopathy, is a very rare disease in which muscle atrophy and degeneration occurs in the distal limbs (such as fingers and ankles). Symptoms typically ...

A clinical trial has led to the approval of a treatment for patients with a rare, muscle-weakening disease called GNE myopathy. In order to treat an underserved population of patients with a rare ...

New avenues are now being opened for future treatment of Laing distal myopathy, a rare disorder that causes muscles in the feet, hands and elsewhere to atrophy.

Recently, I have generated a transgenic mouse model for a skeletal muscle disease, the Laing distal myopathy. These mice carry a single arginine to proline mutation in the β-myosin rod domain and now ...

New avenues are now being opened for future treatment of Laing distal myopathy, a rare disorder that causes muscles in the feet, hands and elsewhere to atrophy. In a study published in the journal ...