Article
Phenotypic heterogeneity of spinal muscular atrophy mapping to chromosome 5q11.2-13.3 (SMA 5q).
Neurology - 1 Dec 1990
Munsat T L, Skerry L, Korf B, Pober B, Schapira Y, Gascon G G, al-Rajeh S M, Dubowitz V, Davies K, Brzustowicz L M
Abstract excerpt
We made phenotypic analysis of 14 families with spinal muscular atrophy (SMA) linking to chromosome 5q11.2-13.3 (SMA 5q), and 2 that may not map to this locus, to assess clinical symptoms among SMA families known to result from mutation at the identical gene/locus. Although the current number of families is still small, the correlation of clinical phenotype and molecular genotype supports 2 observations. First,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.