A novel single-base mutation mimicking exon deletion of MLPA in symptomatic Duchenne muscular dystrophy carrier

Acta Neurol Belg. 2021 Feb;121(1):287-289. doi: 10.1007/s13760-020-01305-6. Epub 2020 Feb 24.

Authors

Min-Sub Cho¹, Jong-Mok Lee^{2

3}

Affiliations

¹ Department of Neurology, Kyungpook National University Hospital, Daegu, South Korea.
² Department of Neurology, Kyungpook National University Hospital, Daegu, South Korea. azulmar@gmail.com.
³ Department of Neurology, School of Medicine, Kyungpook National University, Daegu, South Korea. azulmar@gmail.com.

PMID: 32096065
DOI: 10.1007/s13760-020-01305-6

No abstract available

Keywords: INDEL mutation; Muscle weakness; Whole-exome sequencing; X-chromosome inactivation.

Publication types

Case Reports
Letter

MeSH terms

Exons / genetics*
Female
Gene Deletion*
Heterozygote*
Humans
Middle Aged
Multiplex Polymerase Chain Reaction / methods*
Muscular Dystrophy, Duchenne / diagnostic imaging
Muscular Dystrophy, Duchenne / genetics*
Mutation / genetics*
Pedigree