Disease group (molecular)

Articles

• myofibrillar myopathies
  7 March 2004

  The term myofibrillar myopathy was proposed in 1996 to encompass the spectrum of disorders characterized by an accumulation of myofiber degradation products with abnormal expression of various proteins.
  Myofibrillar myopathy (MFM) is a non-committal term for a pathological pattern of myofibrillar dissolution associated with accumulation of myofibrillar degradation products and ectopic expression of multiple proteins that include desmin, alphaB-crystallin (alphaBC), dystrophin and (...)

• surplus protein myopathies
  19 March 2004

  Sporadic and familial neuromuscular conditions marked by a surplus of proteins present in a granular or filamentous form, such as desmin-related myopathies, actinopathy and, perhaps, hyaline body myopathy.
  desminopathies: mutations in the desmin and alpha-B crystallin genes
  actinopathy: mutations in the actin gene
  surplus sarcoplasmic and/or intranuclear nemaline bodies mutation in tropomyosin-3 mutation in actin mutation in nebulin
  References
  Goebel HH, Warlo IA. Surplus protein (...)

• porphyrias
  4 February 2006

  porphyria

• translation diseases
  4 February 2006

  Definition: Pathology of RNA translation.
  The list of genetic diseases caused by mutations that affect mRNA translation is rapidly growing. Although protein synthesis is a fundamental process in all cells, the disease phenotypes show a surprising degree of heterogeneity.
  Studies of some of these diseases have provided intriguing new insights into the functions of proteins involved in the process of translation; for example, evidence suggests that several have other functions in addition (...)

• hyper-IgE recurrent infection syndromes
  30 June 2011

  HIES, hyper-IgE recurrent infection syndrome

• telomeric diseases
  16 February 2006

  telomere diseases

• sarcomyopathies
  18 March 2004

  sarcomeropathies, sarcomeric protein diseases, inherited disorders of sarcomeric proteins, inherited disorders of contractile proteins in skeletal and cardiac muscle

• prion diseases
  6 March 2004

  prion disorders

• channelopathies
  29 September 2003

  ion channel disorders, ion channel diseases

• phosphoinositide signaling diseases
  15 June 2004

  phosphoinositide signaling disorders

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