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‘Congenital peripheral neuropathy presenting as apnoea and respiratory insufficiency: spinal muscular atrophy with respiratory distress type 1 (SMARD1)’

✍ Scribed by Richard E Appleton; Christoph Hübner; Katja Grohmann; Raymonda Varon

Book ID
111130090
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
44 KB
Volume
46
Category
Article
ISSN
0012-1622

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📜 SIMILAR VOLUMES

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__)