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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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.
|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
|Deposited On:||11 Feb 2008 13:26|
|Last Modified:||23 Nov 2012 17:15|
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