Mitochondrial diseases & metabolic myopathies

Mutations in the MT-ATP6 are a well-known cause of maternally inherited mitochondrial disorders associated with a wide range of clinical phenotypes. Here, we present a 31-year-old female with type 1 diabetes mellitus, recurrent severe lactic acidosis and ketoacidosis, recurrent infections with suspected immunodeficiency with T cell lymphopenia and hypogammaglobulinaemia, as well as proximal tetraparesis with severe muscle and limb pain and rapid physical exhaustion. Muscle biopsy and respiratory chain activities were normal.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research