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Muskeldystrophien Duchenne und Becker

Molekulargenetische Diagnostik und genetisches Modell

Duchenne and Becker muscular dystrophies

Molecular genetic diagnosis and genetic models

Zusammenfassung

Die Duchenne-Muskeldystrophie (DMD) ist die häufigste Muskelerkrankung im Kindesalter. Es liegt ein X-chromosomal rezessiver Erbgang mit Mutationen im Dystrophingen (etwa 65% Deletionen, etwa 7% Duplikationen, etwa 26% Punktmutationen und etwa 2% unbekannte Mutationen) vor. Das genetische Modell ist komplex. Die Mutationsraten in beiden Geschlechtern sind ungleich. Punktmutationen und Duplikationen entstehen eher in der Spermatogenese, Deletionen eher in der Oogenese. Angenähert handelt es sich bezüglich aller Patienten bei etwa 33% um Neumutationen, von welchen der größere Teil als Keimzellmosaik vorliegt. Die Becker-Muskeldystrophie (BMD) ist mit der DMD allelisch.

Abstract

Duchenne muscular dystrophy (DMD) is the most frequent muscular disorder in infancy. The inheritance is X-linked recessive with mutations in the dystrophin gene (about 65% deletions, about 7% duplications, about 26% point mutations, and about 2% unknown mutations). The genetic model is complex. The sex ratio of the mutations is unequal. Point mutations and duplications arise in spermatogenesis, whereas deletions arise in oogenesis. About 33% of all patients are new mutations; however, most new mutations are germline mosaic. Becker muscular dystrophy is allelic to DMD.

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Correspondence to T. Grimm.

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Grimm, T., Kress, W., Meng, G. et al. Muskeldystrophien Duchenne und Becker. medgen 21, 327–331 (2009). https://doi.org/10.1007/s11825-009-0186-3

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Schlüsselwörter

  • Duchenne-Muskeldystrophie
  • Becker-Muskeldystrophie
  • Dystrophingen
  • Genetisches Modell
  • Keimzellmosaik

Keywords

  • Duchenne muscular dystrophy
  • Becker muscular dystrophy
  • Dystrophin gene
  • Genetic model
  • Germline mosaicism