Pseudometabolic Presentation of Dystrophinopathy in a Family Due to a Rare Nonsense Mutation

J Clin Neuromuscul Dis. 2020 Jun;21(4):245-246. doi: 10.1097/CND.0000000000000286.

Authors

Ezgi Saylam¹, Akilandeswari Aravindhan¹, Vikki Stefans², Aravindhan Veerapandiyan¹

Affiliations

¹ Division of Neurology, Department of Pediatrics, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, AR.
² Departments of Pediatrics and Physical Medicine and Rehabilitation, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, AR.

PMID: 32453103
DOI: 10.1097/CND.0000000000000286

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Child
Codon, Nonsense / genetics*
Dystrophin / genetics
Humans
Male
Muscle Cramp / etiology
Muscular Dystrophies / diagnosis*
Muscular Dystrophies / genetics
Myalgia / etiology

Substances

Codon, Nonsense
DMD protein, human
Dystrophin