Phenotype details |
possible congenital muscular dystrophy phenotype; at 1m presented with hypotonia, hyperCKemia (3,000 UI/L, reference values: 55-170 UI/L) and respiratory insufficiency; muscle biopsy showed muscle atrophic fibers along with perimisial and endomisial fibrosis, but without establishing definitive or presumptive diagnosis; 4m-died with diagnosis of right heart failure, respiratory insufficiency, septic shock |