SI-245, 246, 357, 358: (EMD) Emery-Dreifuss Muscular Dystrophy, X-Linked
• Cell line states:
o SI-245: carrier XXY
o SI-246, 357, 358: affected XY
• Defects in EMD cause Emery-Dreifuss muscular dystrophy, an X-linked degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system. 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 distinguish the Emery-Dreifuss form from the Becker form.