Given this potential shared mechanism and the phenotypic variability of COL4A1 mutations, we propose that MDC1A patients that are negative for LAMA2 mutations are suitable candidates for screening for mutations in COL4A1 and COL4A2. Importantly, if a component of the pathology is secondary to deleterious consequences of compromised blood brain barrier and load-induced myopathy, there is the potential for therapeutic interventions to blunt the severity of this devastating disease. This evidence concerns the gene COL4A1 and myopathy.