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Journal of Medical Genetics 1985;22:350-353; doi:10.1136/jmg.22.5.350
Copyright © 1985 by the BMJ Publishing Group Ltd.

Chronic proximal spinal muscular atrophy of childhood and adolescence: problems of classification and genetic counselling.

I Hausmanowa-Petrusewicz, J Zaremba, J Borkowska

Results obtained from a study of 354 cases of chronic proximal spinal muscular atrophy of childhood and adolescence suggest that the condition is not as homogeneous as it was previously thought. A tentative classification based on our results is proposed. Estimates of genetic risks are provided, taking into account the sex and age at clinical onset. In our opinion these factors are more reliable than the data hitherto available because they are based on a considerably larger series.


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  • Russman, B. S. (2007). Spinal Muscular Atrophy: Clinical Classification and Disease Heterogeneity. J Child Neurol 22: 946-951 [Abstract]  
  • Zerres, K., Rudnik-Schoneborn, S. (1995). Natural History in Proximal Spinal Muscular Atrophy: Clinical Analysis of 445 Patients and Suggestions for a Modification of Existing Classifications. Arch Neurol 52: 518-523 [Abstract]  
  • Melki, J, Lefebvre, S, Burglen, L, Burlet, P, Clermont, O, Millasseau, P, Reboullet, S, Benichou, B, Zeviani, M, Le Paslier, D, et, al. (1994). De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science 264: 1474-1477 [Abstract]  

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