Unusual type of benign X linked muscular dystrophy

Alan E H Emery from Green Templeton College, Oxford, describes the excitement of his trip as a single handed ‘research laboratory on wheels’ to the Appalachian Mountains to follow up a large family thought to have ‘mild’ Duchenne muscular dystrophy, which led him to delineate the disorder now known as Emery–Dreifuss muscular dystrophy

Duchenne muscular dystrophy (DMD) was first clearly delineated by Edward Meryon in 1851 but eponymously associated with Duchenne whose involvement was several years later.1 But though the clinical details were well defined by the early 1960s, when my interest in the disease first began while pursuing postgraduate research at Johns Hopkins Hospital in Baltimore, the mode of inheritance was not clear. Sex linked inheritance seemed likely because the disease only affected boys. Furthermore, Walton described a severely affected woman in a family with affected men and postulated she might only have one X chromosome.2 In fact, she did prove …