Emery–Dreifuss muscular dystrophy–a 40 year retrospective
AEH Emery - Neuromuscular Disorders, 2000 - Elsevier
Emery–Dreifuss muscular dystrophy (EDMD) was delineated as a separate form of muscular
dystrophy nearly 40 years ago, based on the distinctive clinical features of early contractures
and humero-peroneal weakness, and cardiac conduction defects. The gene, STA at Xq28,
for the commoner X-linked EDMD encodes a 34 kD nuclear membrane protein designated
'emerin', and in almost all cases on immunostaining is absent in muscle, skin fibroblasts,
leucocytes and even exfoliative buccal cells, and a mosaic pattern in female carriers. The …
dystrophy nearly 40 years ago, based on the distinctive clinical features of early contractures
and humero-peroneal weakness, and cardiac conduction defects. The gene, STA at Xq28,
for the commoner X-linked EDMD encodes a 34 kD nuclear membrane protein designated
'emerin', and in almost all cases on immunostaining is absent in muscle, skin fibroblasts,
leucocytes and even exfoliative buccal cells, and a mosaic pattern in female carriers. The …