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P16.1 Spinal Muscular Atrophy with Respiratory Distress (SMARD1) – A rare form of Spinal Muscular Atrophy

✍ Scribed by S. Ganesan; N. Hussain; J. Gosalakkal

Book ID
114360572
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
35 KB
Volume
15
Category
Article
ISSN
1090-3798

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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 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 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__)