REFERENCES
Brzustowitz LM, Lehner T, Castilla LH, et al (1990) Genetic mapping of childhood-onset spinal muscular atrophy to chromosome 5q11.2–13.3. Nature 344: 540–541.
DiDonato CJ, Ingraham SE, Mendell JR, et al (1997) Deletion and conversion in spinal muscular atrophy patients: is there a relationship to severity? Ann Neurol 41: 230–237.
Gilliam TC, Brzustowicz LM, Castilla LH, et al (1990) Genetic homogeneity between acute and chronic forms of SMA. Nature 345: 823–825.
Hahnen E, Schonling J, Rudnik-Schoneborn S, Zerres K, Wirth B (1996) Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease. Am J Hum Genet 59: 1057–1065.
Jordanova A, Stoyanova V, Kremensky I (1998) Deletion analysis in Bulgarian SMA families. Hum Mutat 11: 33–38.
Lefebrve S, Burglen L, Reboullet S, et al (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80: 155–165.
Melki J, Abdelha KS, Sheth P, et al (1990) Gene for proximal spinal muscular atrophies maps to chromosome 5q. Nature 344: 767–768.
Melki J, Lefebvre S, Burglen L, et al (1994) De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science 264: 1474–1477.
Munsat T, Davies KE (1992) Meeting report. International SMA Consortium meeting. Neuromusc Disord 2: 423–428.
van der Steege G, Grootscholten PM, van der Vlies P, Draaijers TG, Osinga J, Scheffer H (1995) PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 345: 985–986.
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Kremensky, I., Jankova, S., Bochukova, E. et al. Molecular study of spinal muscular atrophy patients with hybrid genes in Bulgaria. J Inherit Metab Dis 22, 322–326 (1999). https://doi.org/10.1023/A:1005512306358
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DOI: https://doi.org/10.1023/A:1005512306358