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Article

Prevalence of SMN1 deletion and duplication in carrier and normal populations: implication for genetic counselling

1 Apr 2003

Abstract excerpt

Spinal muscular atrophy (SMA) is the second most frequent autosomal recessive disease, with a prevalence of 1 in 6000 live born infants.1 It is characterised by degeneration of motor neurones of the anterior horn of the spinal cord, leading to symmetrical muscular weakness and atrophy. The International SMA Consortium classification2 defines several degrees of severity in the SMA phenotype, depending on the age...

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PMID: 12676912
DOI: 10.1136/jmg.40.4.e39

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