Distal Hereditary Motor Neuronopathy Type 2c

Distal Hereditary Motor Neuronopathy Type 2c, also known as neuronopathy, distal hereditary motor, type 2c, is related to neuronopathy, distal hereditary motor, autosomal dominant 4 and myopathy, myofibrillar, 6. An important gene associated with Distal Hereditary Motor Neuronopathy Type 2c is HSPB3 (Heat Shock Protein Family B (Small) Member 3), and among its related pathways/superpathways are Regulation of degradation of deltaF508 CFTR in CF and HSF1-dependent transactivation. Related phenotypes are steppage gait and distal lower limb muscle weakness