The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease

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Mutations of the survival motor neurone gene (SMN) are associated with spinal muscular atrophy (SMA), a frequent lethal autosomal recessive disorder. In spite of this, no phenotype-genotype correlation was observed, since the SMN gene is lacking in t

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https://europepmc.org/articles/PMC1712562/

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Association among biomarkers, phenotypes, and motor milestones in Chinese patients with 5q spinal muscular atrophy types 1-3.

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Autor: Seroz T; MGC-Department of Cell Biology and Genetics, Center for Biomedical Genetics, Erasmus University Rotterdam, PO Box 1738, 3000 DR Rotterdam, The Netherlands., Winkler GS, Auriol J, Verhage RA, Vermeulen W, Smit B, Brouwer J, Eker AP, Weeda G, Egly JM, Hoeijmakers JH

Publikováno v: Nucleic acids research [Nucleic Acids Res] 2000 Nov 15; Vol. 28 (22), pp. 4506-13.