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.