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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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| Publicado no: | J Med Case Rep |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2018
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| Assuntos: | |
| Acesso em linha: | 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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