Any symptom, in any organ, at any age: A case report of multiple genetic diagnoses mimicking mitochondrial disease in an adult with kidney disease
Nephrology (Carlton)
.
2022 Jul;27(7):640-641.
doi: 10.1111/nep.14023.
Epub 2022 Feb 6.
Authors
Chathri Ratnayake
1
,
Rocio Rius
2
3
,
Mathew Wallis
4
5
6
,
Rajesh Raj
1
5
,
John Christodoulou
2
3
7
Affiliations
1
Department of Renal Medicine, Launceston General Hospital, Tasmanian Health Service, Australia.
2
Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Australia.
3
Department of Paediatrics, University of Melbourne, Melbourne, Australia.
4
Tasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, Tasmania, Australia.
5
School of Medicine, University of Tasmania, Hobart, Australia.
6
Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia.
7
Victorian Clinical Genetic Services, Melbourne, Australia.
PMID:
35128751
DOI:
10.1111/nep.14023
No abstract available
Publication types
Case Reports
Letter
MeSH terms
Adult
Humans
Kidney Diseases* / diagnosis
Kidney Diseases* / genetics
Mitochondrial Diseases* / diagnosis
Mitochondrial Diseases* / genetics