UPDF AI

MELAS syndrome associated with a new mitochondrial tRNA-Val gene mutation (m.1616A>G)

Y. Toyoshima,Yuji Tanaka,K. Satomi

2017 · DOI: 10.1136/bcr-2017-220934
BMJ Case Reports · 6 Citations

TLDR

It is reported that the pathognomonic symptom in MELAS syndrome caused by this newly observed mtDNA mutation may be rapid progression of cardiomyopathy and severe heart failure.