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Fig. 1 | BMC Neurology

Fig. 1

From: Optimized MLPA workflow for spinal muscular atrophy diagnosis: identification of a novel variant, NC_000005.10:g.(70919941_70927324)del in isolated exon 1 of SMN1 gene through long-range PCR

Fig. 1

Results of MLPA P021 for both families. a Case F1-II.1 demonstrated two copy numbers of exon 1 and three copies of exons 2–6, while the exons 7 and 8 in survival motor neuron 1 (SMN1):SMN2 copy number is 1:2. b The mother of F1-II.1 carries 2:2 copies of exons 7 and 8 in SMN1 and SMN2; conversely, it carries two copies of exon 1 and four copies of exons 2–6. c Case F1-I.2, the father of proband, exhibited three copies of exon 1 and exon 2–6, and the SMN1:SMN2 copy number is 1:2. d Case F2-II.1 caused two copy numbers of exon 1 and three copies of exon 2–6, whereas the SMN1:SMN2 copy number is 1:2. e The mother of case F2-I.1, whose SMN1:SMN2 copy number is 2:1, carries two copies of exon 1 and three copies of exons 2–6. f Case F2-I.2, the father of proband, exhibited three copies of exon 1 and exons 2–6, and the SMN1:SMN2 copy number is 1:2

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BMC Neurology

ISSN: 1471-2377

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