Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies

Neuromuscul Disord. 2014 Dec;24(12):1122. doi: 10.1016/j.nmd.2014.07.007. Epub 2014 Aug 7.

Authors

Caroline A Sewry¹, Hans H Goebel²

Affiliations

¹ Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Sick Children and Institute of Child Health, London, UK. Electronic address: c.sewry@imperial.ac.uk.
² Charité - Universitätsmedizin Berlin, Germany. Electronic address: hans-hilmar.goebel@charite.de.

PMID: 25193335
DOI: 10.1016/j.nmd.2014.07.007

No abstract available

Publication types

Letter
Comment

MeSH terms

Female
Humans
Male
Membrane Proteins / genetics*
Muscular Dystrophies / genetics*
Muscular Dystrophies / pathology*
Nuclear Envelope / ultrastructure*
Nuclear Proteins / genetics*

Substances

Membrane Proteins
Nuclear Proteins