Molecular basis of genetic heterogeneity: role of the clinical neurologist.

Abstract excerpt

Advances in molecular genetics have disclosed many different explanations for allelic heterogeneity, how different clinical syndromes arise from mutations in the same gene. The converse, how similar clinical syndromes arise from mutations of different genes on different chromosomes is called locus heterogeneity. Both, however, give rise to some disease-defining mutations, as in childhood spinal muscular atrophy...

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