Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report

BACKGROUND: Pompe disease is an autosomal recessive lysosomal storage disorder characterized by progressive myopathy with proximal muscle weakness, respiratory muscle dysfunction, and cardiomyopathy. Its prevalence ranges between 1/9000 and 1/40,000. It is caused by compound heterozygous or homozygo...

Descripción completa

Detalles Bibliográficos
Autores principales: Adadi, Najlae, Sahli, Maryem, Egéa, Grégory, Ratbi, Ilham, Taoudi, Mohamed, Zniber, Layla, Jdioui, Wafaa, El Mouatassim, Said, Sefiani, Abdelaziz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6205784/
https://www.ncbi.nlm.nih.gov/pubmed/30371346
http://dx.doi.org/10.1186/s13256-018-1855-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6205784/
https://www.ncbi.nlm.nih.gov/pubmed/30371346
http://dx.doi.org/10.1186/s13256-018-1855-0

Ejemplares similares