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...

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Vydáno v:J Med Case Rep
Hlavní autoři: Adadi, Najlae, Sahli, Maryem, Egéa, Grégory, Ratbi, Ilham, Taoudi, Mohamed, Zniber, Layla, Jdioui, Wafaa, El Mouatassim, Said, Sefiani, Abdelaziz
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2018
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6205784/
https://ncbi.nlm.nih.gov/pubmed/30371346
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13256-018-1855-0
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