Skeletal dysplasia is a complex group of bone and cartilage disorders with strong clinical genetic heterogeneity. Several types have prenatal phenotypes, it difficult to make molecular diagnosis rapidly. In this study, the cause 16 Chinese fetuses skeletal were analyzed, 12 cases yielded positive results including one deletion in DMD gene detected by SNP-array 14 variants other 6 genes whole ex...

Skeletal dysplasias are a group of rare genetic disorders that affect growth and development the skeleton, leading to physical deformities other medical problems. High-throughput genome sequencing technologies have made it easier genotype disorder, but do not always reflect phenotypic outcome. CHST3-related skeletal dysplasia is caused by reduced function carbohydrate sulfotransferase sulfates ...

Many neuromuscular disorders affect more than skeletal muscle. Because of the common structural and now more apparent molecular features between skeletal and cardiac muscles, many of the neuromuscular disorders also result in cardiovascular complications. Cardiomyopathy and conduction system diseases are the most frequent extramuscular features seen with many muscular dystrophies. The most comm...

introduction: satellite cells are known as the main regenerative cell type in skeletal muscles. our study established a modified digestion and preplating method for the isolation of slow or weak adherent cells for the enrichment of satellite cells. low-survival rate of these primary stem cells prompted us to address whether cell culture medium substitution might change cell viability status. me...

The development of a functional three-dimensional model of human skeletal muscle tissue could accelerate progress towards new and personalized treatments for skeletal muscle disorders.