Non-deletion mutations in Egyptian patients with Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophies affecting approximately 1:3500 male live births. Deletion of the dystrophin gene accounts for approximately 65% of mutations, duplications occur in 6–10% while the remaining 20–30% are point mutations, small deletion/i...

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Principais autores:	Rabah M. Shawky, Solaf M. Elsayed, Theodor Todorov, Andree Zibert, Salem Alawbathani, Hartmut H.-J. Schmidt
Formato:	Artigo
Idioma:	Inglês
Publicado:	SpringerOpen 2014-07-01
Series:	Egyptian Journal of Medical Human Genetics
Assuntos:	Duchenne muscular dystrophy Deletion Duplication Egypt MLPA Sequencing
Acceso en liña:	http://www.sciencedirect.com/science/article/pii/S1110863014000536
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