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Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations
We present six novel patients affected by lipid storage myopathy (LSM) presenting mutations in the ETFDH gene. Although the diagnosis of multiple acyl-coenzyme-A dehydrogenase deficiency (MADD) in adult life is difficult, it is rewarding because of the possibility of treating patients with carnitine...
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| Publicado no: | JIMD Rep |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5874208/ https://ncbi.nlm.nih.gov/pubmed/28456887 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2017_27 |
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