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P67 Early presentation of spinal muscular atrophy with respiratory distress (SMARD1)

✍ Scribed by T. Khan; C.G.E.L. De Goede; C. Ross; H. Kingston; C. Lumsden; S. Dharmaraj; A. Selby

Book ID
117670231
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
43 KB
Volume
20
Category
Article
ISSN
0960-8966

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Infantile spinal muscular atrophy with r
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)
✍ Katja Grohmann; Raymonda Varon; Piroschka Stolz; Markus Schuelke; Catrin Janetzk πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 213 KB

## Abstract Autosomal recessive spinal muscular atrophy with respiratory distress type 1 (SMARD1) is the second anterior horn cell disease in infants in which the genetic defect has been defined. SMARD1 results from mutations in the gene encoding the immunoglobulin μ‐binding protein 2 (__IGHMBP2__)