A case with short stature and proteinuria: atypical presentation of a family with m.3243A>G mutation

Short stature without any other complaint and renal involvement are rare findings in m.3243A>G mutation. In patients presenting with proteinuria, in the presence of conditions affecting many systems such as endocrine system pathologies, hearing loss, and cardiac pathologies, and in the presence of individuals with a similar family history of multiple organ involvement, mitochondrial diseases should be considered, and examined from this perspective. Our case illustrates the value of a detailed medical and family history.