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Article

[A rare cause of respiratory failure in infants: distal spinal-muscular atrophy 1 (DSMA1 or SMARD1)].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Oct 2012

Chalançon M, Debillon T, Dieterich K, Commare M-C

Abstract excerpt

Distal spinal-muscular atrophy 1 (DSMA1) or spinal-muscular atrophy with respiratory distress type 1 (SMARD1) is a rare neuromuscular disorder resulting from IGHMBP2 mutations. It is an autosomal recessive disease. We present the case of a 1-year-old girl admitted for respiratory failure associated with pneumonia. Right hemidiaphragmic elevation on the chest radiograph and distal retractions suggested the...

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Source

Identifiers

PMID: 22981475
DOI: 10.1016/j.arcped.2012.07.020

Genes

IGHMBP2

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