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Article

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

Neuromuscular disorders : NMD - 1 May 2011

Pierson Tyler Mark, Tart Gary, Adams David, Toro Camilo, Golas Gretchen, Tifft Cynthia, Gahl William

Abstract excerpt

Spinal muscular atrophy with respiratory distress (SMARD1) presents within the first 13months of age with low birth weight, progressive length dependent motor neuropathy, and respiratory failure from diaphragmatic paralysis. SMARD1 is caused by mutations in IGHMBP2, encoding the immunoglobulin μ-binding protein 2. Because of the severity of the disorder, many infantile-onset SMARD1 patients do not live past the...

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Identifiers

PMID: 21353777
DOI: 10.1016/j.nmd.2011.02.005
PMCID: PMC3085694

Genes

IGHMBP2

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