Triglyceridspeicherkrankheit mit Myopathie ist eine autosomal rezessive Erkrankung, die durch Mutationen des PNPLA2-Gens ausgelöst wird.
Triglyceridspeicherkrankheit | ||||
Triglyceridspeicherkrankheit mit Ichtiosis | ||||
Triglyceridspeicherkrankheit mit Myopathie | ||||
PNPLA2 | ||||
1. |
Fischer J et al. (2007) The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. |
2. |
Akiyama M et al. (2007) Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy. |
3. |
Reilich P et al. (2011) The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene. |
4. |
Lin P et al. (2012) Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy. |
5. |
Janssen MC et al. (2013) Symptomatic lipid storage in carriers for the PNPLA2 gene. |
6. |
OMIM.ORG article Omim 610717 |
7. |
Orphanet article Orphanet ID 98908 |