Disease group (molecular)

Articles

• telomeric diseases
  16 February 2006

  telomere diseases

• porphyrias
  4 February 2006

  porphyria

• sarcomyopathies
  18 March 2004

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

• OXPHOS diseases
  27 January 2005

  OXPHOS deficiency, anomalies of oxydative phosphorylation, mitochondrial respiratory-chain diseases, mitochondrial cytopathy, mitochondriopathies

• cytoskeletopathies
  18 March 2004

  cytoskeletalopathies

• laminopathies
  15 September 2003

  ’Laminopathies’ are associated with defects in proteins of the nuclear envelope. Most laminopathy mutations have been mapped to the A-type lamin gene, which is expressed in most adult cell types.
  Laminopathies comprise a group of inherited diseases with variable clinical phenotypes, caused by mutations in the lamin A/C gene (LMNA).
  A prominent feature in several of these diseases is muscle wasting, as seen in Emery Dreifuss muscle dystrophy, dilated cardiomyopathy and limb-girdle muscular (...)

• neurofilamentopathies
  18 March 2004

  Pathology (neurofilamentopathies)
  NEFL germline mutations in
  autosomal dominant Charcot-Marie-Tooth disease of the 2E axonal form (CMT2E) (MIM.607684)
  germline mutations in Charcot-Marie-Tooth disease of the 1F type (CMT1F) (MIM.607734)
  NEFH variants in susceptibility to amyotrophic lateral sclerosis (ALS) (MIM.105400)
  See also
  intermediate filaments
  neurofilaments
  NEFL
  NEF3 (NEFM)
  NEFH
  References
  Lariviere RC, Julien JP. Functions of intermediate filaments in (...)

• enzymatic diseases
  12 February 2006

  genetic enzymes defects, enzyme diseases

• 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 (...)

• channelopathies
  29 September 2003

  ion channel disorders, ion channel diseases

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