Condition: Distal Spinal Muscular Atrophy


rs200089714 in IGHMBP2 gene and Distal Spinal Muscular Atrophy PMID 14506069 2003 Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1.

PMID 24388491 2014 Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells.