Prenatal diagnosis of Duchenne muscular dystrophy revealed a novel mosaic mutation in Dystrophin gene: a case report

BACKGROUND: Duchenne muscular dystrophies (DMDs) are X-linked recessive neuromuscular disorders with malfunction or absence of the Dystrophin protein. Precise genetic diagnosis is critical for proper planning of patient care and treatment. In this study, we described a Chinese family with mosaic DMD...

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Detalles Bibliográficos
Autores principales: Wang, Yan, Chen, Yuhan, Wang, San Mei, Liu, Xin, Gu, Ya Nan, Feng, Zhichun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7661169/
https://www.ncbi.nlm.nih.gov/pubmed/33176713
http://dx.doi.org/10.1186/s12881-020-01157-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7661169/
https://www.ncbi.nlm.nih.gov/pubmed/33176713
http://dx.doi.org/10.1186/s12881-020-01157-0

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