• LGMDs
  • LGMDs are diseases having wide inter‐ and intra‐familial phenotypic heterogeneity and therefore the limbgirdle phenotype is often the only one of the possible phenotypic expressions of a specific protein defect. (els.net)
  • diseases
  • Most of these diseases present with wide clinical heterogeneity and the limbgirdle phenotype should be regarded as one of the possible phenotypic expressions of a specific protein defect. (els.net)
  • This review reports a comprehensive update on the genetic bases and the main clinical aspects of these groups of diseases according to protein defect and transmission modality. (els.net)
  • If successful, these types of therapies will provide new options for patients suffering from muscular dystrophy and other genetic diseases. (stanford.edu)
  • LIFE ), a biotherapeutics company engaged in the discovery and development of Physiocrine-based therapeutics to address severe, rare diseases, today announced that its product candidate Resolaris™ was granted Fast Track designation by the U.S. Food and Drug Administration (FDA) for the treatment of limb girdle muscular dystrophy 2B (LGMD2B), making it the first known therapeutic candidate for the treatment of LGMD2B to receive the designation. (benzinga.com)
  • Most of the genetic markers of Arabs genetic diseases are phenotypic i.e. specific mutations of Arab peoples, especially in countries. (wikipedia.org)
  • Muscular dystrophy (MD) is a group of muscle diseases that results in increasing weakening and breakdown of skeletal muscles over time. (wikipedia.org)
  • familial
  • The palladin mutation identified in familial pancreatic cancer may be unique to a single North American family, as this same mutation has not been found in any other European or North American populations, respectively, in two other genetic studies. (wikipedia.org)
  • Muscle
  • On the other hand, transgenic mice with mutated myotilin develop muscle dystrophy. (wikipedia.org)
  • We are attempting to perform genetic engineering on muscle stem cells while they are resident in the tissue. (stanford.edu)
  • It is hoped that through the use of these modified stem cells, large quantities of progenitor cells could be produced to be transplanted into a patient's muscle following genetic correction or to be used for drug development platforms. (bio-medicine.org)
  • The signs and symptoms consistent with muscular dystrophy are: Progressive muscular wasting Poor balance Scoliosis (curvature of the spine and the back) Progressive inability to walk Waddling gait Calf deformation Limited range of movement Respiratory difficulty Cardiomyopathy Muscle spasms Gowers' sign These conditions are generally inherited, and the different muscular dystrophies follow various inheritance patterns. (wikipedia.org)
  • Specific muscle groups are affected by different types of muscular dystrophy. (wikipedia.org)
  • The myotonia (delayed relaxation of a muscle after a strong contraction) occurring in myotonic muscular dystrophy may be treated with medications such as quinine. (wikipedia.org)
  • involvement
  • Specifically, genetic variants studies at PSMD3 indicated that its involvement in the regulation of insulin signal transduction could be effected by dietary factors. (wikipedia.org)