EMERY DREIFUSS SYNDROME
\ˈɛməɹi dɹˈe͡ɪfʌs sˈɪndɹə͡ʊm], \ˈɛməɹi dɹˈeɪfʌs sˈɪndɹəʊm], \ˈɛ_m_ə_ɹ_i d_ɹ_ˈeɪ_f_ʌ_s s_ˈɪ_n_d_ɹ_əʊ_m]\
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An X-linked recessive muscular dystrophy that may present in children or adults. The disease is characterized by a clinical triad: (1) CONTRACTURE of the elbows, ACHILLES TENDON, and posterior cervical muscles; (2) slowly progressive muscle atrophy and weakness; and (3) a cardiomyopathy usually presenting as an atrioventricular block (HEART BLOCK). The weakness initially affects the upper arm and chest muscles, followed by pelvic and leg muscle paresis. Sudden death (DEATH, SUDDEN, CARDIAC) may occur as the result of the cardiac conduction defect. (Adams et al., Principles of Neurology, 6th ed, p1419; Curr Opin Neurol 1997;10 (5):421-425)
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Proto Oncogene Proteins c erbB 2
- cell surface protein-tyrosine kinase that is found to be overexpressed in significant number adenocarcinomas. It has extensive homology can heterodimerize EGF EPIDERMAL GROWTH FACTOR), 3 receptor (RECEPTOR, 3) and the 4 receptor. Activation of erbB-2 receptor occurs during heterodimer formation with a ligand-bound erbB family members. EC 2.7.11.-.