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Hergersberg, M; Glatzel, M; Capone, A; Achermann, S; Hagmann, A; Fischer, J; Ersch, J; Aguzzi, A; Boltshauser, E (2000). Deletions in the spinal muscular atrophy gene region in a newborn with neuropathy and extreme generalized muscular weakness. European Journal of Paediatric Neurology, 4(1):35-38.

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Abstract

A newborn presented with respiratory insufficiency requiring artificial ventilation, inability to swallow, lack of spontaneous movements including the facial muscles, and areflexia. Nerve conduction velocities were not recordable. Molecular analysis showed a homozygous deletion in the spinal muscular atrophy (SMN) gene region on chromosome 5q. Pathological and neuropathological examination revealed a normal number of anterior horn cells, hypomyelinated axons in peripheral nerves and some atrophy of skeletal muscle fibres in combination with sarcoplasmic glycogen accumulation. This observation illustrates that severe congenital neuropathy can result from deletions in the SMN gene.

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Additional indexing

Item Type:Journal Article, refereed
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Institute of Neuropathology
DDC:570 Life sciences; biology
610 Medicine & health
Language:English
Date:2000
Deposited On:11 Feb 2008 12:26
Last Modified:23 Nov 2012 16:15
Publisher:W.B. Saunders
ISSN:1090-3798
Publisher DOI:10.1053/ejpn.1999.0258
PubMed ID:10701103

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