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Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus.

The lethal congenital contracture syndrome (LCCS) is an autosomal recessive syndrome (McKusick 253310) leading to perinatal death owing to early onset degeneration of the anterior horn motor neurones of the spinal cord. The neuropathological findings in the LCCS closely resemble those of spinal musc...

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Bibliografiske detaljer
Main Authors: Vuopala, K, Mäkelä-Bengs, P, Suomalainen, A, Herva, R, Leisti, J, Peltonen, L
Format: Artigo
Sprog:Inglês
Udgivet: 1995
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050176/
https://ncbi.nlm.nih.gov/pubmed/7897624
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