Article
Molecular basis of phenotypic heterogeneity in siblings with spinal muscular atrophy.
Annals of neurology - 1 Aug 1996
Parano E, Pavone L, Falsaperla R, Trifiletti R, Wang C
Abstract excerpt
We report on a family with childhood-onset spinal muscular atrophy with intrafamilial phenotypic variation. Typical of a large majority of such patients, both the child with spinal muscular atrophy type I and the child with type II were missing both copies of the survival motor neuron telomeric gene (SMN(T)). The more severely affected child, however, showed genotypic evidence consistent with the de novo loss of...
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