Myopathy refers to diseases of skeletal muscles (muscles connected to bone). The condition can be acute (meaning sudden, severe, and short-lasting) or chronic (persistent, recurrent, and often ...

We studied five patients from two families from the United States of America. In family CSM1, two out of three siblings developed proximal muscle weakness and wasting while in their twenties or ...

A number of proteins regulating this process are mutated in human diseases. We focus on centronuclear myopathy due to mutations in the large GTPase dynamin 2 (DNM2), the first protein shown to ...

Division of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD. (B.A., B.M., S.A.M., C.T., A.G., R.T.C., H.C., C.A.J., A.S ...

Contributed by Richard P. Lifton; received October 3, 2024; accepted January 14, 2025; reviewed by David Altshuler and Sekar Kathiresan ...

As a crucial cellular process involved in degrading and recycling damaged organelles and proteins, autophagy-related (ATG) proteins mediated autophagy plays a significant role in various physiological ...

There are two types of muscular hypertrophy, known as myofibrillar hypertrophy and sarcoplasmic hypertrophy. Myofibrillar hypertrophy focuses on building strength, while sarcoplasmic hypertrophy ...