Unusual pedigree patterns in seven families with spinal muscular atrophy; further evidence for the allelic model hypothesis
- 23 April 2008
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 30 (3) , 145-149
- https://doi.org/10.1111/j.1399-0004.1986.tb00586.x
Abstract
Clinical and genetic findings are presented in 18 patients, from 7 pedigrees with different types of spinal muscular atrophy (SMA). The SMA diagnosis was based on EMG and muscle biopsy findings. All 7 pedigrees show an unusual genetic pattern, not consistent with simple autosomal recessive inheritances. Futhermore, in 6 of the 7 pedigrees different types of SMA were present within each pedigree. Our findings can be explained by an extension of a multiple alleles hypothesis originally described by Becker in 1964.Keywords
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