5q13

We present the case of a floppy neonate with marked and generalized weakness, respiratory insufficiency and fetal akinesia… (More)

BACKGROUND Aneurysms and dissections affecting the ascending aorta are associated primarily with degeneration of the aortic media… (More)

Spinal muscular atrophy (SMA) is a motor-neuron disorder resulting from anterior-horn–cell death. The autosomal recessive form… (More)

Proximal spinal muscular atrophy is an autosomal recessive human disease of spinal motor neurons leading to muscular weakness… (More)

Spinal muscular atrophy (SMA) is a common, often fatal, autosomal recessive disease leading to progressive muscle wasting and… (More)

Spinal muscular atrophy (SMA) is a common fatal autosomal recessive disorder characterized by degeneration of lower motor neurons… (More)

Autosomal recessive spinal muscular atrophy is a motor neuron disease which affects about 1 in 10,000 births. Recent evidence… (More)

BACKGROUND Wagner disease and erosive vitreoretinopathy are potentially blinding autosomal dominant diseases that share some… (More)

Proximal spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder characterized by degeneration of… (More)

Spinal muscular atrophies (SMAs) represent the second most common fatal autosomal recessive disorder after cystic fibrosis… (More)