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NEW MUTATION [1 record]

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Record 1 2010-04-20

English

Subject field(s)
  • Genetics
CONT

Exclusive paternal origin of new mutations in Apert syndrome.

CONT

Progressive muscular dystrophy (PMD) is a group of inherited diseases marked by wasting and progressive weakness of the skeletal muscles. The involvement of other organs such as cardiac insufficiency and dilation of stomach can also be demonstrated by a careful examination. The genetic cause may be inherited by three modes of inheritance pattern (dominant, recessive, X-linked), or the gene may also be defective due to a new mutation.

French

Domaine(s)
  • Génétique
CONT

Comme l'achondroplasie, le syndrome d'Apert, maladie autosomique dominante, est rarement héritée d'un parent malade, mais survient le plus souvent de façon sporadique par néomutation chez un enfant issu de parents indemnes mais plus agés que la moyenne des couples.

Spanish

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