Duchenne muscular dystrophy caused by a novel deep intronic DMD mutation

Muscle Nerve. 2018 Jun;57(6):E136-E138. doi: 10.1002/mus.26073. Epub 2018 Feb 2.

Authors

Matthew R Ginsberg¹, Andrew J McCarty², David Lacomis^{3

4}, Hoda Z Abdel-Hamid¹

Affiliations

¹ Department of Pediatric Neurology, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
² Department of Laboratory Services, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
³ Department of Neurology, University of Pittsburgh School of Medicine and UPMC, Pittsburgh, Pennsylvania, USA.
⁴ Department of Pathology (Neuropathology), University of Pittsburgh School of Medicine and UPMC, Pittsburgh, Pennsylvania.

PMID: 29346715
DOI: 10.1002/mus.26073

No abstract available

Keywords: DMD; Duchenne muscular dystrophy; intronic; mutation; splice-site.

Publication types

Case Reports

MeSH terms

Child, Preschool
Dystrophin / genetics*
Humans
Introns*
Male
Muscle, Skeletal / pathology
Muscular Dystrophy, Duchenne / genetics*
Muscular Dystrophy, Duchenne / pathology
Mutation*
Siblings

Substances

DMD protein, human
Dystrophin