《英文msh词典》Rod Myopathies
[入口词] Rod Myopathies
[主题词] Myopathies,Nemaline
[英文释义] A group of inherited congenital myopathic conditions characterized clinically by weakness,hypotonia,and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al.,Principles of Neurology,6th ed,p1453)