Disease

Articles

• Klinefelter syndrome
  13 June 2003

  Klinefelter’s syndrome

• juvenile nephronophthisis
  27 October 2003

  Nephronophthisis comprises a group of autosomal recessive cystic kidney diseases, which constitute the most frequent genetic cause for end-stage renal failure in children and young adults.
  Synopsis
  medullary cystic disease renal medullary cysts renal corticomedullary cysts renal interstitial fibrosis renal tubular atrophy relatively spared glomeruli
  nephronophthisis-associated hepatic disease nephronophthisis-associated congenital hepatic fibrosis hepatic fibrosis
  Variants (...)

• Beckwith-Wiedemann syndrome
  17 September 2003

  Wiedemann-Beckwith syndrome

• Ullrich congenital muscular dystrophy
  23 September 2003

  Ullrich’s congenital muscular dystrophy, UCMD, scleroatonic muscular dystrophy

• cryptococcosis
  14 March 2007

  cryptococcal infections, cryptococcoses

• inclusion body myopathy-3
  13 March 2004

  IBM3

• Duchenne muscular dystrophy
  14 November 2003

  Duchenne muscular dystrophy (DMD) is an x-linked recessive disorder, primarily characterized by progressive muscle weakness and wasting.
  The disease results from the absence of dystrophin (DMD; MIM.300377), however the precise molecular mechanisms leading to muscle pathology are poorly understood.
  The dystrophin complex has two functions: a structural role in maintaining sarcolemmal integrity during contraction and a scaffolding function that recruits signaling proteins such as neuronal (...)

• X-linked Emery-Dreifuss muscular dystrophy
  14 November 2003

  EDMD

• Fukuyama congenital muscular dystrophy
  16 October 2003

  Fukuyama’s congenital muscular dystrophy, Fukuyama disease

• multiminicore disease
  28 October 2003

  Multiminicore disease (MmD) is an autosomal recessive congenital myopathy characterized by the presence of multiple, short core lesions (known as "minicores") in most muscle fibers. MmD is a clinically heterogeneous condition, in which four subgroups have been distinguished.
  Prevalence is unknown. Marked clinical variability corresponds to genetic heterogeneity: the most instantly recognizable classic phenotype characterized by spinal rigidity, early scoliosis and respiratory impairment is (...)

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