[HTML][HTML] Reduced expression of nicotinic AChRs in myotubes from spinal muscular atrophy I patients
AS Arnold, M Gueye, S Guettier-Sigrist… - Laboratory …, 2004 - Elsevier
Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by
degeneration of motoneurons and skeletal muscle atrophy. In its most severe form, it leads
to death before the age of 2 years. While primary degeneration of motor neurons is well
established in this disease, and this results in neurogenic atrophy of skeletal muscle, we
have previously reported evidence for a primary muscle defect. In this study, we used
primary cultures of embryonic human skeletal muscle cells from patients with SMA and from …
degeneration of motoneurons and skeletal muscle atrophy. In its most severe form, it leads
to death before the age of 2 years. While primary degeneration of motor neurons is well
established in this disease, and this results in neurogenic atrophy of skeletal muscle, we
have previously reported evidence for a primary muscle defect. In this study, we used
primary cultures of embryonic human skeletal muscle cells from patients with SMA and from …