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Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man

✍ Scribed by Tyler Mark Pierson; Gary Tart; David Adams; Camilo Toro; Gretchen Golas; Cynthia Tifft; William Gahl

Book ID
116794756
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
93 KB
Volume
21
Category
Article
ISSN
0960-8966

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πŸ“œ 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 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__)