Epidermolysis Bullosa Simplex With Muscular Dystrophy

Epidermolysis bullosa simplex with muscular dystrophy: An autosomal recessive disease characterized early childhood onset of progressive muscular dystrophy and blistering skin changes and that has material basis in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24 ...1

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Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy. ...2

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Symptoms List: Epidermolysis Bullosa Simplex With Muscular Dystrophy

Symptoms and clinical features may include:3 Clinical Features of Epidermolysis Bullosa Simplex With Muscular Dystrophy:

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Treatments

See also the following treatment articles:

Causes

See also causal information:



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References

  1. Source: Disease Ontology
  2. Source: Monarch Initiative
  3. Source: Human Phenotype Ontology

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