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

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

Abstract 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...

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Main Authors: Najlae Adadi, Maryem Sahli, Grégory Egéa, Ilham Ratbi, Mohamed Taoudi, Layla Zniber, Wafaa Jdioui, Said El Mouatassim, Abdelaziz Sefiani
Format: Article
Language:English
Published: BMC 2018-10-01
Series:Journal of Medical Case Reports
Subjects:
Post-mortem diagnosis
Pompe disease
GAA gene
Moroccan family
Online Access:http://link.springer.com/article/10.1186/s13256-018-1855-0

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