An irish case of limb-girdle muscular dystrophy 2I with structural eye involvement

Muscle Nerve. 2016 Sep;54(3):509-10. doi: 10.1002/mus.25059. Epub 2016 Mar 1.

Authors

Siew Mei Yap¹, Michael Farrell², Jane Cryan², Shane Smyth¹

Affiliations

¹ Department of Neurology, Mater Misericordiae University Hospital, Dublin, Ireland.
² Department of Neuropathology, Beaumont Hospital, Beaumont Road, Dublin, Ireland.

PMID: 26833294
DOI: 10.1002/mus.25059

No abstract available

Publication types

Case Reports

MeSH terms

Adult
Cataract / complications*
Creatine Kinase / metabolism
Echocardiography
Electromyography
Female
Humans
Muscular Dystrophies, Limb-Girdle / complications*
Mutation / genetics
Neural Conduction / physiology
Pentosyltransferases
Proteins / genetics

Substances

Proteins
FKRP protein, human
Pentosyltransferases
Creatine Kinase

Supplementary concepts

Limb-girdle muscular dystrophy type 2A