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American Society for Clinical Investigation, Journal of Clinical Investigation, 5(98), p. 1130-1132

DOI: 10.1172/jci118895

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Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.

Journal article published in 1996 by L. Bürglen, J. Amiel ORCID, L. Viollet, S. Lefebvre, P. Burlet, O. Clermont, V. Raclin, P. Landrieu, A. Verloes, A. Munnich, J. Melki
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

The survival motor neuron (SMN) gene was lacking in 6/12 patients with arthrogryposis multiplex congenita (AMC) associated with spinal muscular atrophy (SMA). Neither point mutation in the SMN gene nor evidence for linkage to chromosome 5q13 were found in the other patients. Hitherto, arthrogryposis was regarded as an exclusion criterion in SMA. Our data strongly suggest that AMC of neurogenic origin is genetically heterogeneous, with a subgroup being allelic to SMA. Absence or interruption of the SMN gene in the AMC-SMA association will make the diagnosis easier and genetic counselling will now become feasible.