
doi: 10.1038/344540a0
pmid: 2320125
SPINAL muscular atrophy (SMA) describes a group of heritable degenerative diseases that selectively affect the alpha-motor neuron. Childhood-onset SMAs rank second in frequency to cystic fibrosis among autosomal recessive disorders, and are the leading cause of heritable infant mortality. Predictions that genetic heterogeneity underlies the differences between types of SMA, together with the aggressive nature of the most-severe infantile form, make linkage analysis of SMA potentially complex. We have now analysed 13 clinically heterogeneous SMA families. We find that 'chronic' childhood-onset SMA (including intermediate SMA or SMA type II, and Kugelberg-Welander or SMA type III) is genetically homogeneous, mapping to chromosomal region 5q11.2-13.3.
Genetic Markers, Adolescent, Chromosome Mapping, Infant, Muscular Atrophy, Spinal, Gene Frequency, Child, Preschool, Chromosomes, Human, Pair 5, Humans, Lod Score, Child
Genetic Markers, Adolescent, Chromosome Mapping, Infant, Muscular Atrophy, Spinal, Gene Frequency, Child, Preschool, Chromosomes, Human, Pair 5, Humans, Lod Score, Child
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