## 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 ΞΌβbinding protein 2 (__IGHMBP2__)
Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1
β Scribed by Alberto Giannini; Anna Maria Pinto; Giordano Rossetti; Edi Prandi; Danilo Tiziano; Christina Brahe; Nardo Nardocci
- Publisher
- Springer
- Year
- 2006
- Tongue
- English
- Weight
- 131 KB
- Volume
- 32
- Category
- Article
- ISSN
- 1432-1238
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Autosomal recessive spinal muscular atrophy with respiratory distress (SMARD) is a heterogeneous disorder. Mutations in the immunoglobulin micro-binding protein gene (IGHMBP2) lead to SMARD1, but clinical criteria that delineate SMARD1 from other SMARD syndromes are not well established. Here we pre
## Abstract We report on a woman with a an 8βyear history of multiple system atrophy with predominance of parkinsonism who developed jawβlocking oromandibular dystonia within hours after insertion of illβfitting dentures. Dystonia spread rapidly to involve other facial muscles and the larynx causin