Identifier |
20180304_nanos_posters_068 |
Title |
Tubular Aggregate Myopathy with Miosis and Rod-Cone Dysfunction |
Creator |
Greg Richardson; Apeksha Shah; Aleksandar Radunovic; Naz Raoof |
Affiliation |
(GR) (AS) (AR) (NR) The Royal London Hospital, Barts Health NHS Trust, London, United Kingdom |
Subject |
Neuro-ophth & Systyemic Disease (eg. MS, MG, Thyroid); Pupils; Retina |
Description |
Tubular aggregate myopathy (TAM) is a rare condition primarily affecting skeletal muscles. Abnormal proteins build up in type I and II fibres forming bundles of tube-like structures called tubular aggregates. It is characterized by muscle pain, cramps, weakness and fatigability. There have been reports of pupil miosis, ophthalmoplegia and retinal degeneration in patients with TAM. Two genes have been implicated in TAM; STIM1 gene encodes a protein which acts as endoplasmic reticulum calcium sensor, and ORAI1 gene which encodes calcium release-activated calcium channel. We report a patient with miosis, rod-cone dysfunction and TAM with heterozygous Pro245Leu mutation in the ORAI1 gene. |
Date |
2018-03 |
Language |
eng |
Format |
application/pdf |
Type |
Text |
Source |
2018 North American Neuro-Ophthalmology Society Annual Meeting |
Relation is Part of |
NANOS 2018: Poster Presentations |
Collection |
Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
Publisher |
Spencer S. Eccles Health Sciences Library, University of Utah |
Holding Institution |
North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416 |
Rights Management |
Copyright 2018. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
ARK |
ark:/87278/s63c001p |
Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
Setname |
ehsl_novel_nam |
ID |
1308008 |
Reference URL |
https://collections.lib.utah.edu/ark:/87278/s63c001p |