References
Cobben JM, Steege G van der, Grootscholten P, Visser M de, Scheffer H, Buys CHCM (1995) Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy. Am J Hum Genet 57:805–808
Hahnen E, Forkert R, Marke C, Rudnik-Schöneborn S, Schönling J, Zerres K, Wirth B (1995) Molecular analysis of candidate genes on chromosome 5ql3 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals. Hum Mol Genet 4: 1927–1933
Lefebvre S, Burglen L, Reboullet S, Clermont 0, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, et al (1995) Identification and characterization of a spinal muscular atrophy determining gene. Cell 80: 155–165
Pfeiffer RA, Jünemann A, Lorenz B, Sieber E (1995) Aplasia of the optic nerve in two cases of partial trisomy 10q24-ter. Clin Genet 48: 183–187
Rodrigues NR, Owen N, Talbot K, Ignatius J, Dubowitz V, Davies KE (1995) Deletions in the survival motor neuron gene on 5ql3 in autosomal recessive spinal muscular atrophy. Hum Mol Genet 4: 631–634
Rudnik-Schöneborn S, Forkert R, Hahnen E, Wirth B, Zerres K (1996) Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings. Neuropediatrics 27: 8–15
Rudnik-Schöneborn S, Wirth B, Hahnen E, Kreiß-Nachtsheim M, Zerres K (1996) Spinale Muskelatrophien — klinische Formen und Stand der molekulargenetischen Diagnostik. Med Genetik 8: 179–186
Velasco E, Valero C, Valero A, Moreno F, Hernández-Chico C (1996) Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype. Hum Mol Genet 5: 257–263
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Hofner, G., Nährlich, L. & Lauffer, H. Balanced translocation t(4q; lOq) in infantile spinal muscular atrophy. Eur J Pediatr 156, 896–897 (1997). https://doi.org/10.1007/BF03260102
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DOI: https://doi.org/10.1007/BF03260102