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A two-site ELISA can quantify upregulation of SMN protein by drugs for spinal muscular atrophy
Spinal muscular atrophy is an inherited disorder that causes motor neuron degeneration and mainly affects babies and young children. The authors show that a two-site ELISA can measure both the low levels of SMN protein in severe spinal muscular atrophy patients and the small increases after treatment of cell cultures with drugs.
See p. 1757; Editorial, p. 1752
Novel congenital myopathy locus identified in Native American Indians at 12q13.13–14.1
Native American myopathy is an autosomal recessive congenital myopathy first reported in the Lumbee Indian people. This paper identifies five individuals with Native …
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