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Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy.
Open accessAbstract
A total population study of chronic childhood spinal muscular atrophy (arrested Werdnig-Hoffmann disease, Kugelberg-Welander disease, SMA type II and III) was undertaken in north-east England to establish gene and carrier frequencies, incidence, and prevalence. The incidence of this disease was 1 in 24 100 live births. Prevalence was 1.20 per 100,000 of the general population. A technique for estimating an autosomal recessive gene frequency in the known presence of dominant new mutations (or phenocopies), using data from a segregation analysis, is described. Gene frequency was in the range (0.00451 to 0.00659 (95% confidence limits), with a working estimate of 0.0055. Carrier rates for the autosomal recessive gene concerned were 1 in 76 to 1 in 111 (95%) confidence limits), with a working estimate of 1 in 90 for genetic counselling purposes.
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Cited by
Population frequencies of inherited neuromuscular diseases—A world survey
Emery, A. E. H. (1991) · Neuromuscular Disorders · doi:10.1016/0960-8966(91)90039-u · Cited by 1,448
Verhaart, I. E. C., Robertson, A., Wilson, I. J., Aartsma-Rus, A., Cameron, S., Jones, C. C., Cook, S. F., & Lochmüller, H. (2017) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-017-0671-8 · Cited by 739
Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?
Burghes, A. H. M., & Beattie, C. E. (2009) · Nature Reviews Neuroscience · doi:10.1038/nrn2670 · Cited by 723
The SMN–SIP1 Complex Has an Essential Role in Spliceosomal snRNP Biogenesis
Fischer, U., Liu, Q., & Dreyfuss, G. (1997) · Cell · doi:10.1016/s0092-8674(00)80368-2 · Cited by 658
Liu, Q., Fischer, U., Wang, F., & Dreyfuss, G. (1997) · Cell · doi:10.1016/s0092-8674(00)80367-0 · Cited by 657
Metadata
- Authors
- Pearn, J.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 1978-12
- Volume
- 15
- Issue
- 6
- Pages
- 409-413
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2141047754
- Cited by
- 472
- References
- 0
- FWCI
- 1.16
- Type
- journal article
- Language
- en
- Open access
- bronze
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