Duchenne muscular dystrophy–like phenotype in an LGMD2I patient with novel FKRP gene variants

A 32-year-old man initially received a diagnosis of Duchenne muscular dystrophy (DMD). Genetic analysis revealed two novel heterozygous FKRP variants: c.169G>A (p.Glu57Lys) and c.692G>A (p.Trp231*). These results indicated that the patient had limb-girdle muscular dystrophy type 2I (LGMD2I) ca...

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Autores principales: Okazaki, Tetsuya, Matsuura, Kaori, Kasagi, Noriko, Adachi, Kaori, Kai, Masachika, Okubo, Mariko, Nishino, Ichizo, Nanba, Eiji, Maegaki, Yoshihiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7171098/
https://www.ncbi.nlm.nih.gov/pubmed/32351701
http://dx.doi.org/10.1038/s41439-020-0099-x
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author Okazaki, Tetsuya
Matsuura, Kaori
Kasagi, Noriko
Adachi, Kaori
Kai, Masachika
Okubo, Mariko
Nishino, Ichizo
Nanba, Eiji
Maegaki, Yoshihiro
author_facet Okazaki, Tetsuya
Matsuura, Kaori
Kasagi, Noriko
Adachi, Kaori
Kai, Masachika
Okubo, Mariko
Nishino, Ichizo
Nanba, Eiji
Maegaki, Yoshihiro
author_sort Okazaki, Tetsuya
collection PubMed
description A 32-year-old man initially received a diagnosis of Duchenne muscular dystrophy (DMD). Genetic analysis revealed two novel heterozygous FKRP variants: c.169G>A (p.Glu57Lys) and c.692G>A (p.Trp231*). These results indicated that the patient had limb-girdle muscular dystrophy type 2I (LGMD2I) caused by recessive FKRP variants. Patients with LGMD2I and DMD have many overlapping phenotypes. LGMD2I should be considered in patients who have a DMD phenotype but not a DMD pathogenic variant.
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spelling pubmed-71710982020-04-29 Duchenne muscular dystrophy–like phenotype in an LGMD2I patient with novel FKRP gene variants Okazaki, Tetsuya Matsuura, Kaori Kasagi, Noriko Adachi, Kaori Kai, Masachika Okubo, Mariko Nishino, Ichizo Nanba, Eiji Maegaki, Yoshihiro Hum Genome Var Data Report A 32-year-old man initially received a diagnosis of Duchenne muscular dystrophy (DMD). Genetic analysis revealed two novel heterozygous FKRP variants: c.169G>A (p.Glu57Lys) and c.692G>A (p.Trp231*). These results indicated that the patient had limb-girdle muscular dystrophy type 2I (LGMD2I) caused by recessive FKRP variants. Patients with LGMD2I and DMD have many overlapping phenotypes. LGMD2I should be considered in patients who have a DMD phenotype but not a DMD pathogenic variant. Nature Publishing Group UK 2020-04-20 /pmc/articles/PMC7171098/ /pubmed/32351701 http://dx.doi.org/10.1038/s41439-020-0099-x Text en © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Data Report
Okazaki, Tetsuya
Matsuura, Kaori
Kasagi, Noriko
Adachi, Kaori
Kai, Masachika
Okubo, Mariko
Nishino, Ichizo
Nanba, Eiji
Maegaki, Yoshihiro
Duchenne muscular dystrophy–like phenotype in an LGMD2I patient with novel FKRP gene variants
title Duchenne muscular dystrophy–like phenotype in an LGMD2I patient with novel FKRP gene variants
title_full Duchenne muscular dystrophy–like phenotype in an LGMD2I patient with novel FKRP gene variants
title_fullStr Duchenne muscular dystrophy–like phenotype in an LGMD2I patient with novel FKRP gene variants
title_full_unstemmed Duchenne muscular dystrophy–like phenotype in an LGMD2I patient with novel FKRP gene variants
title_short Duchenne muscular dystrophy–like phenotype in an LGMD2I patient with novel FKRP gene variants
title_sort duchenne muscular dystrophy–like phenotype in an lgmd2i patient with novel fkrp gene variants
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7171098/
https://www.ncbi.nlm.nih.gov/pubmed/32351701
http://dx.doi.org/10.1038/s41439-020-0099-x
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