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Retinopathy Associated with Biallelic Mutations in PYGM (McArdle Disease).

Authors :
Mahroo OA
Khan KN
Wright G
Ockrim Z
Scalco RS
Robson AG
Tufail A
Michaelides M
Quinlivan R
Webster AR
Source :
Ophthalmology [Ophthalmology] 2019 Feb; Vol. 126 (2), pp. 320-322. Date of Electronic Publication: 2018 Oct 11.
Publication Year :
2019

Subjects

Subjects :
Alleles
Biopsy
DNA Mutational Analysis
Electroretinography
Glycogen Storage Disease Type V diagnosis
Glycogen Storage Disease Type V genetics
Heterozygote
Humans
Male
Middle Aged
Peripherins metabolism
Retinal Diseases diagnosis
Retinal Diseases etiology
Tomography, Optical Coherence
DNA genetics
Glycogen Storage Disease Type V complications
Mutation
Peripherins genetics
Retinal Diseases genetics

Details

Language :
English
ISSN :
1549-4713
Volume :
126
Issue :
2
Database :
MEDLINE
Journal :
Ophthalmology
Publication Type :
Academic Journal
Accession number :
30316539
Full Text :
https://doi.org/10.1016/j.ophtha.2018.09.013
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