Different Phenotypes Caused by the Unique Mutation in the Same Family with Mitochondrial Encephalomyopathy

Abstract

Background and Objective:  Mitochondrial encephalomyopathies represent a clinically heterogeneous group of disorders resulting from abnormal mitochondrial function. This study investigates the clinical and genetic characteristics of families with mitochondrial encephalomyopathy. Methods:  The clinical manifestations, biopsy and gene detection were retrospectively analyzed for four probands with definitively diagnosed mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) from three families with MELAS and/or maternally inherited diabetes and deafness (MIDD). Results:  The initial symptoms of probands were convulsive headache and/or epilepsy. The members of the three families also had diabetes, deafness, muscle weakness and short statures. Typical characteristics were indicated by muscle biopsy and gene detection in all. Conclusion:  We reveal that the same family can have MIDD and MELAS cases, which clearly show that the unique mutation may cause different syndromes in one family. Neurologists should take into account more possibilities and phenotypes in screening and genetic counselling for the families of probands.