Location of the IGHMBP2 gene on chromosome<unk> 1, locus<unk> 1q13.3 DSMA1 is caused by a genetic mutation in the IGHMBP2 gene (located on chromosome<unk> 1, locus<unk> 1q13.3), which codes the immunoglobulin helicase μ-binding protein 2. The role of the IGHMBP2 protein is not fully understood, but it is known to affect mRNA processing. The cellular mechanisms of the mutation, as well as the protein mechanisms disrupted by the mutation, are unknown. IGHMBP2 mutations are usually random mutations which are normally not passed down through generations.
Distal spinal muscular atrophy type 1
Distal spinal muscular atrophy type 2
Jokela type spinal muscular atrophy
Spinal muscular atrophy
X-linked spinal muscular atrophy type 2
Fukuyama congenital muscular dystrophy
Becker muscular dystrophy
Ullrich congenital muscular dystrophy