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J Med Genet. 1995 March; 32(3): 216–219.
PMCID: PMC1050321

Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2-q13.

Abstract

Two sibs affected by the severe neonatal form of spinal muscular atrophy (SMA) with diaphragmatic paralysis are described. The two sibs were discordant for the haplotypes determined by DNA markers flanking the SMA locus. This supports non-linkage of SMA to chromosome 5 in this family and indicates that the uncommon SMA type I variant associated with early onset respiratory failure maps outside the 5q11.2-q13.3 region.

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Selected References

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  • Iaizzo PA, Franke C, Hatt H, Spittelmeister W, Ricker K, Rüdel R, Lehmann-Horn F. Altered sodium channel behaviour causes myotonia in dominantly inherited myotonia congenita. Neuromuscul Disord. 1991;1(1):47–53. [PubMed]
  • Rudnik-Schöneborn S, Röhrig D, Morgan G, Wirth B, Zerres K. Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: clinical picture, influence of gender, and genetic implications. Am J Med Genet. 1994 May 15;51(1):70–76. [PubMed]
  • Brzustowicz LM, Lehner T, Castilla LH, Penchaszadeh GK, Wilhelmsen KC, Daniels R, Davies KE, Leppert M, Ziter F, Wood D, et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature. 1990 Apr 5;344(6266):540–541. [PubMed]
  • Melki J, Abdelhak S, Sheth P, Bachelot MF, Burlet P, Marcadet A, Aicardi J, Barois A, Carriere JP, Fardeau M, et al. Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature. 1990 Apr 19;344(6268):767–768. [PubMed]
  • Gilliam TC, Brzustowicz LM, Castilla LH, Lehner T, Penchaszadeh GK, Daniels RJ, Byth BC, Knowles J, Hislop JE, Shapira Y, et al. Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature. 1990 Jun 28;345(6278):823–825. [PubMed]
  • Daniels RJ, Suthers GK, Morrison KE, Thomas NH, Francis MJ, Mathew CG, Loughlin S, Heiberg A, Wood D, Dubowitz V, et al. Prenatal prediction of spinal muscular atrophy. J Med Genet. 1992 Mar;29(3):165–170. [PMC free article] [PubMed]
  • Mérette C, Brzustowicz LM, Daniels RJ, Davies KE, Gilliam TC, Melki J, Munnich A, Pericak-Vance MA, Siddique T, Voosen B, et al. An investigation of genetic heterogeneity and linkage disequilibrium in 161 families with spinal muscular atrophy. Genomics. 1994 May 1;21(1):27–33. [PubMed]
  • Lo Cicero S, Capon F, Melchionda S, Gennarelli M, Novelli G, Dallapiccola B. First-trimester prenatal diagnosis of spinal muscular atrophy using microsatellite markers. Prenat Diagn. 1994 Jun;14(6):459–462. [PubMed]
  • Cobben JM, Scheffer H, de Visser M, Begeer JH, Molenaar WM, van der Steege G, Buys CH, van Ommen GJ, Ten Kate LP. Apparent SMA I unlinked to 5q. J Med Genet. 1994 Mar;31(3):242–244. [PMC free article] [PubMed]
  • Huschenbett J, Hanke R, Pfeifer L, Speer A. Prenatal diagnosis of the acute form of proximal spinal muscular atrophy: experience on the acceptance of linkage analyses by the families. Prenat Diagn. 1993 Jul;13(7):643–649. [PubMed]
  • Mellins RB, Hays AP, Gold AP, Berdon WE, Bowdler JD. Respiratory distress as the initial manifestation of Werdnig-Hoffmann disease. Pediatrics. 1974 Jan;53(1):33–40. [PubMed]
  • Schapira D, Swash M. Neonatal spinal muscular atrophy presenting as respiratory distress: a clinical variant. Muscle Nerve. 1985 Oct;8(8):661–663. [PubMed]
  • Bove KE, Iannaccone ST. Atypical infantile spinomuscular atrophy presenting as acute diaphragmatic paralysis. Pediatr Pathol. 1988;8(1):95–107. [PubMed]
  • Bosman C, Bachelet V, Boldrini R, Bertini E. Diaphragmatic paralysis due to partial diaphragmatic hypoplasia mimicking a localized muscular dystrophy: a case report. Clin Neuropathol. 1988 Jan-Feb;7(1):33–38. [PubMed]
  • Bertini E, Gadisseux JL, Palmieri G, Ricci E, Di Capua M, Ferriere G, Lyon G. Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: a variant of infantile spinal muscular atrophy. Am J Med Genet. 1989 Jul;33(3):328–335. [PubMed]
  • McWilliam RC, Gardner-Medwin D, Doyle D, Stephenson JB. Diaphragmatic paralysis due to spinal muscular atrophy. An unrecognised cause of respiratory failure in infancy? Arch Dis Child. 1985 Feb;60(2):145–149. [PMC free article] [PubMed]
  • Brzustowicz LM, Mérette C, Kleyn PW, Lehner T, Castilla LH, Penchaszadeh GK, Das K, Munsat TL, Ott J, Gilliam TC. Assessment of nonallelic genetic heterogeneity of chronic (type II and III) spinal muscular atrophy. Hum Hered. 1993 Nov-Dec;43(6):380–387. [PubMed]
  • Melki J, Abdelhak S, Burlet P, Raclin V, Kaplan J, Spiegel R, Gilgenkrantz S, Philip N, Chauvet ML, Dumez Y, et al. Prenatal prediction of Werdnig-Hoffmann disease using linked polymorphic DNA probes. J Med Genet. 1992 Mar;29(3):171–174. [PMC free article] [PubMed]
  • Matilla T, Corral J, Miranda M, Troyano J, Morrison K, Volpini V, Estivill X. Prenatal diagnosis of Werdnig-Hoffmann disease: DNA analysis of a mummified umbilical cord using closely linked microsatellite markers. Prenat Diagn. 1994 Mar;14(3):219–222. [PubMed]
  • Melki J, Lefebvre S, Burglen L, Burlet P, Clermont O, Millasseau P, Reboullet S, Bénichou B, Zeviani M, Le Paslier D, et al. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science. 1994 Jun 3;264(5164):1474–1477. [PubMed]

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