Candidate screening of the bovine and feline spinal muscular atrophy genes reveals no evidence for involvement in human motor neuron disorders.

Journal article

Spinal muscular atrophy (SMA) is a devastating neuromuscular disease characterised by progressive loss of spinal motor neurons. Mutations in the genes underlying spontaneous bovine and feline models of SMA have recently been described. The clinical and pathological features of these disorders are similar to human forms of SMA making both genes excellent candidates in patients with motor neuron loss of no known aetiology. Here we report that a screen for mutations in coding regions and splice ...

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Authors: Parkinson, N; Baumer, D; Rose-Morris, A; Talbot, K

• Journal: Neuromuscular disorders : NMD
• Volume: 18
• Issue: 5
• Pages: 394-397
• Publication date: 2008-05-01
• DOI: 10.1016/j.nmd.2008.03.003
• EISSN: 1873-2364
• ISSN: 0960-8966
• Language: English
• Keywords: RNA-Binding Proteins; Gene Frequency; Genotype; Sequence Analysis, DNA; Muscular Atrophy, Spinal; Cats; Polymerase Chain Reaction; Mice; Genetic Predisposition to Disease; Exons; Mutation; Alcohol Oxidoreductases; Animals; Proteins; Polymorphism, Single Nucleotide; Cattle; Genetic Testing; DNA Mutational Analysis; Humans; Motor Neuron Disease; Amyotrophic Lateral Sclerosis