Neuromuscular

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DYSTROPHINOPATHIES

Clinical syndromes
  Becker
  Cardiomyopathy
  Cramps
  Duchenne
  Female carrier
  Mental retardation
  Microdeletion
  Outliers
Dystrophin gene
  Mutations
Dystrophin protein
  Associated glycoproteins
Genotype-Phenotype Correlations
Pathology
  Duchenne
  Becker

Dystrophinopathies: External link

From: A Kornberg

Duchenne muscular dystrophy
Standing from supine position

From Bramwell: Diseases of the Spinal Cord



Dystrophinopathies: Clinical

  Dystrophin ; Chromosome Xp21.2-p21.1; Recessive

Becker
Cardiomyopathy
Cramps
Duchenne
  Laboratory
Female carrier
Mental retardation
Microdeletion
Outliers

From NLM
Guillaume-Benjamin
  Duchenne de Boulogne


De la Paralysie Musculaire Pseudo-hypertrophique...
1868

Dystrophin gene 1

Dystrophin protein 1

Dystrophin: Genotypes & Phenotype Correlations

Mutation types & size
  Point
    Missense
    Splice
      Pseudoexons
  Deletions
    Chromosome
  Duplications
Reading frame
Dystrophin, Other
Other genes


Duchenne Headstone

Return to Myopathy & NMJ Index
Return to Neuromuscular Syndromes

References
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2. Human Mol Genet 2000;9:1357-1367
3. Neuromuscular Disorders 2000;10:257-263
4. Human Mol Genet 2001;10:2627-2635
5. Neuromuscular Disorders 1999;9:339-346
6. Neuromuscular Disorders 2002;12:917–925
7. Neuromuscular Disorders 2003;13:129-132
8. Neuromuscular Disorders 2002;12:926–929
9. Neuromuscular Disorders 2003;13: Online March
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18. Pediatrics 2010 Dec 13
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20. Neurology 2011; Online June
21. Hum Mutat 2011;32:299-308
22. European Journal of Neurology 2012; Online May
23. Muscle Nerve 2013;47:124-127
24. Ann Neurol 2012; Online Nov

8/28/2014