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 ...

The work helps explain why minimal changes in the human genome, also known as missense mutations, cause disease at the molecular level. The researchers discovered that protein instability is one ...

Figure 1: Pedigree and genotypic analysis of a DRM family. Figure 2: Transverse cryostat sections of the muscle from a DRM patient (III8 on pedigree). Figure 3: Cytoplasmic aggregates are formed ...