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2012, Number 2

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Ciencia UG 2012; 2 (2)

Reporte de un caso: Atrofia espinal tipo I (Síndrome de Werdnig - Hoffmann)

Colin GC, Godínez HA, Orozco VV
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Language: Spanish
References: 16
Page: 16-18
PDF size: 584.23 Kb.


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REFERENCES

  1. 1.- McKusick VA. Mendeliam Inheritance in man. Catalogs of autosomal dominant, autosomal recessive, and X linked phenotypes. 11ed. Baltimore: John Hopkins University; 1996.

  2. 2.- Melki J, Sheth P, Abdelhak S, Burlet P, Bachelot MF, Millaseau P, Reboullet S, et al. Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. Lancet 1990;336:271-3.

  3. 3.- Hernández C, Sanpedro E, Valero C, Patiño- E, Moreno- Herrero F. Diagnóstico prenatal de atrofia muscular espinal. Anales españoles de pediatría 1995;42(6):429-35.

  4. 4.- Pearn J. Classification of Spinal muscular atrophies. Lancet 1980, 1(8174):919-22.

  5. 5.- Menéndez I, Hernández C, Cepero F. Estudio clínico,genético y molecular en un paciente con atrofia muscular espinal. Rev Cubana Pediatr 1998;70: 48-52.

  6. 6.- Hardart MK, Troug RD. Spinal muscular atrophy type I. Arch Dis Child 2003;88(10): 848-50.

  7. 7.- Sanchez R, Gallón C, Martínez N. Atrofia muscular espinal infantil. Revisión y reporte de tres casos. Rev Cubana Obstet Ginecol 1999; 25:128-34.

  8. 8.- Markowirtz JA, Tinkle MB, Fischbeck KH. Spinal muscular atrophy in the neonate. J Obstet Gynecol Neonatal Nurs 2004;33(1):12-20.

  9. 9.- Cheliout –Heraut F, Barois A, Urtizberea A, Viollet L, Estournet-Mathiaud B. Evoked potentials in spinal muscular atrophy. J Child Neurol 2003;18(6):383-90.

  10. 10.- Rudnik-Schöneborn S, Stolz P, Varon R, Grohmann K, Schächtele M, Ketelsen UP, et al. Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1. Neuropediatrics 2004;35(3):174-82.

  11. 11.- Nutman J, Nitzan M, Grünebaum M. Swallowing disturbances in Werdnig-Hoffmann disease. Harefuah 1981;101(11):301-3.

  12. 12.- Bono R, Inverno M, Botteon G, Iotti E, Estienne M, Berardinelli A, et al. Prospective study of gross motor development in children with SMA type II. Ital J Neurol Sci 1995;16(4):223-30.

  13. 13.- Dubowitz V. Muscle disorders in childhood. Major Probl Clin Pediatr. 1978;16:1-282.

  14. 14.- Scheffer H. Spinal muscular atrophy. Methods Mol Med 2004; 92:343-58.

  15. 15.- Boda B, Mas C, Giudicelli C, Nepote V, Guimiot F, Levacher B, et al. Survival motor neuron SMN 1 and SMN2 gene promoters: identical sequences and differential expression in neurons and non-neuronal cells. Eur J Hum Genet 2004;12(9):729-24.

  16. 16.- Migita M, Migita M, Uchikoba Y, Orimo H, Shimada T, Shimada T, et al. Genetic diagnosis of Werdnig-Hoffmann disease: a problem for application to prenatal diagnosis. J Nippon Med Sch 2003; 70(1):45-8.




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Ciencia UG. 2012;2