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Article

Assessment of nonallelic genetic heterogeneity of chronic (type II and III) spinal muscular atrophy.

Human heredity - 1 Jan 2000

Brzustowicz L M, Mérette C, Kleyn P W, Lehner T, Castilla L H, Penchaszadeh G K, Das K, Munsat T L, Ott J, Gilliam T C

Abstract excerpt

We have previously reported the mapping of the chronic (type II/intermediate and type III/mild/Kugelberg-Welander) form of the childhood-onset spinal muscular atrophies (SMA) to chromosome 5q11.2-13.3, with evidence for nonallelic genetic heterogeneity within a small sample of seven families [Brzustowicz et al., Nature 1990;344:540-541]. We now report the results of linkage analysis and heterogeneity testing on a...

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PMID: 7904586
DOI: 10.1159/000154164

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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