Spinal muscular atrophy
SMA4.
The gene called SMN (SMN = survival of motor neuron) is on chromosome 5 in region 5q11-13. Unaffected individuals have both the SMN gene and a copy of the SMN gene arranged in tandem on each chromosome 5. These are referred to as SMNT (telomeric copy of SMN) and SMNC (centromeric copy of SMN). The mutations in SMN that result in SMA are in SMNT, the telomeric copy of the gene.
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