Disease group (molecular)

Articles

• sarcoglycanopathies
  19 March 2004
• desminopathies
  19 March 2004

  Group of diseases caused by anomalies of desmin.
  Types (exemples)
  desmin myopathy
  Synopsis
  granulofilamentous deposits of mutated desmin
  References
  Paulin D, Huet A, Khanamyrian L, Xue Z. Desminopathies in muscle disease. J Pathol. 2004 Nov;204(4):418-27. PMID: #15495235#
  Wang X, Osinska H, Gerdes AM, Robbins J. Desmin filaments and cardiac disease: establishing causality. J Card Fail. 2002 Dec;8(6 Suppl):S287-92. PMID: #12555134#
  Zhang J, Kumar A, Stalker HJ, Virdi G, Ferrans (...)

• sarcomyopathies
  18 March 2004

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

• 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 (...)

• dystrophinopathies
  19 March 2004

  See also
  dystrophin
  dystrophin-glycoprotein complex

• 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 (...)

• phosphoinositide signaling diseases
  15 June 2004

  phosphoinositide signaling disorders

• hyper-IgE recurrent infection syndromes
  30 June 2011

  HIES, hyper-IgE recurrent infection syndrome

• protein misfolding diseases
  14 January 2006

  protein-misfolding diseases, misfolding diseases, protein folding associated diseases

• cardiac channelopathies
  18 March 2004

  In arrhythmogenic disorders, the long QT syndromes and Brugada syndrome, mutations have been described in a number of ion channel proteins, including cardiac potassium (KVLQT1, HERG and minK) and sodium (SCN5A) channels.

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