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  • Title: [Very severe spinal muscular atrophy--type 0. A cause of congenital multiple arthrogryposis].
    Author: Balslev T, Hertz JM, Rackauskaite G, Sørensen LA.
    Journal: Ugeskr Laeger; 2001 Oct 08; 163(41):5679-80. PubMed ID: 11665473.
    Abstract:
    A female infant born at term, with reduced fetal movements in utero, congenital multiple contractures, severe weakness at birth, and a short time of survival is described. The diagnosis was confirmed by identification of homozygous deletion of exons 7 and 8 of the SMNt gene. Severe spinal muscular atrophy should be considered in the differential diagnosis of reduced fetal movements.
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