Phenotypic intermediate forms overlapping to Emery-Dreifuss and limb girdle muscular dystrophies caused by lamin A/C gene mutations

Pediatr Neurol. 2014 May;50(5):e11-2. doi: 10.1016/j.pediatrneurol.2014.01.036. Epub 2014 Jan 24.

Authors

Marco A V Albuquerque¹, Lívia M Pasqualin², Cristiane A Martins², Umbertina C Reed², Edmar Zanoteli²

Affiliations

¹ Department of Neurology, Medical School of the University of São Paulo, São Paulo, Brazil. Electronic address: [email protected].
² Department of Neurology, Medical School of the University of São Paulo, São Paulo, Brazil.

PMID: 24656463
DOI: 10.1016/j.pediatrneurol.2014.01.036

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Female
Humans
Lamin Type A / genetics*
Male
Muscular Dystrophies, Limb-Girdle / genetics*
Muscular Dystrophies, Limb-Girdle / pathology*
Muscular Dystrophy, Emery-Dreifuss / genetics*
Muscular Dystrophy, Emery-Dreifuss / pathology*
Phenotype*

Substances

LMNA protein, human
Lamin Type A