Title: | Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency |
Journal : | Neurology. Genetics, 3, 6 |
Authors: | Ben Yaou R, Author ; Hubert A ; Nelson I ; Dahlqvist JR ; Gaist D ; Streichenberger N ; Beuvin M ; Krahn M ; Petiot P ; Parisot F ; Michel F ; Malfatti E ; Romero NB ; Carlier RY ; Eymard B ; Labrune P ; Duno M ; Krag T ; Cerino M ; Bartoli M ; Bonne G ; Vissing J ; Laforet P ; Petit FM |
Material Type: | Article |
Publication Date: | 2017 |
Languages: | English |
Keywords : | case studies ; clinical presentation ; clinical variations ; genetic analysis ; genetic diagnosis ; genetic mutations ; genotype-phenotype correlation ; glycogenin 1 ; glycogenin 1-related disease ; GYG1 gene ; muscle glycogen storage disease type XV ; muscle histopathology ; phenotypic heterogeneity |
Pubmed / DOI : | DOI : 10.1212/NXG.0000000000000208 / Pubmed : 29264399 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/29264399 |
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