Emery-Dreifuss muscular dystrophy, X-linked (Q90639)

X-linked Emery-Dreifuss muscular dystrophy-1 is a degenerative myopathy characterised by weakness and atrophy of muscle without involvement of the nervous system. It is clinically characterised by flexion deformities of the elbows dating from early childhood, mild pectus excavatum, signs of cardiac involvement and absence of muscle pseudohypertrophy, involvement of the forearm muscles, and mental retardation. It is caused by mutation in the gene encoding emerin on chromosome Xq28.