Skip to main content
. 2020 Jun 19;15(6):e0232654. doi: 10.1371/journal.pone.0232654

Table 1. Detailed sequential analysis of 961 suspected DMD patients leading to confirmed mutational status.

MPCR status MLPA status NGS Status Mutation status Number of patients
Negative Negative NGS Done No variant 16
Negative Negative NGS Done DMD 98
Negative Negative NGS Done DMD/BMD 2
Negative Negative NGS Done BMD 1
Negative Negative NGS Done OMD 100
Negative Negative NGS Done Other disorders 29
Negative Positive DMD Single Exon Deletion 11
Negative Positive DMD Single Exon Duplication 24
Negative Positive DMD Contiguous Deletion 4
Negative Positive DMD Contiguous Duplication 29
Negative Positive BMD Single Exon Deletion 3
Negative Positive BMD Single Exon Duplication 1
Negative Positive BMD Contiguous Duplication 11
Negative Positive Cannot Comment 1
Negative Positive Non-Contiguous Duplication 7
Negative Positive Non-Contiguous Deletion & Duplication 1
Positive BNC MLPA Done DMD-Single Exon Deletion 7
Positive BNC MLPA Done DMD-Contiguous Deletion 117
Positive BNC MLPA Done BMD-Single Exon Deletion 1
Positive BNC MLPA Done BMD-Contiguous Deletion 33
Positive BNC MLPA Done Cannot Comment 3
Positive DMD Single Exon 117
Positive DMD Contiguous Deletion 304
Positive BMD Single Exon 2
Positive BMD Contiguous Deletion 26
Positive Non-Contiguous Deletion MLPA Done Non-Contiguous Deletion 2
Positive Non-Contiguous Deletion MLPA Done Contiguous Deletion 8
Positive Cannot Comment MLPA Done Contiguous Deletion 1
Positive Cannot Comment MLPA Done promoter regions 1
Positive Cannot Comment 1
Total 961