| kongenital muskeldystrofi med laminin a2-brist | kongenitális izomdisztófia laminin a2-hiánnyal [f.r.]infocongenital muscular dystrophy with laminin a2 deficiency, laminin alpha 2-deficient CMD, hypotonia at birth or within the first few months of life, contractures of large joints, elevated serum creatine kinase, CK, levels, abnormal white matter changes |
