Myofibrillar myopathy due to dominant LMNA mutations: A report of 2 cases

Muscle Nerve. 2018 May;57(5):E124-E126. doi: 10.1002/mus.26036. Epub 2017 Dec 20.

Authors

Priya S Dhawan¹, Teerin Liewluck¹, Joseph Knapik², Margherita Milone¹

Affiliations

¹ Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.
² Department of Neurology and Rehabilitation, Saint Mary's Regional Medical Center, Enid, Oklahoma, USA.

PMID: 29211919
DOI: 10.1002/mus.26036

No abstract available

Keywords: ICD; LMNA; laminopathy; muscular dystrophy; myofibrillar myopathy; vacuoles.

Publication types

Case Reports

MeSH terms

Adult
Female
Humans
Lamin Type A / genetics*
Male
Middle Aged
Muscle, Skeletal / diagnostic imaging
Mutation / genetics*
Myopathies, Structural, Congenital / diagnostic imaging
Myopathies, Structural, Congenital / genetics*
Tomography Scanners, X-Ray Computed

Substances

LMNA protein, human
Lamin Type A

Supplementary concepts

Myofibrillar Myopathy