Novel myophosphorylase mutation (p.Arg94Pro) with progressive exercise intolerance

We present a 16‐year‐old girl with a unique clinical phenotype characterized by rapidly progressive exercise intolerance, transient exertional weakness, and progressive muscle cramps involving all limbs and bulbar muscles, following a first myoglobinuric episode at age 15 years, arising from homozyg...

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Detalles Bibliográficos
Autores principales: Nabavi Nouri, Maryam, Lamhonwah, Anne‐Marie, Tein, Ingrid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838269/
https://www.ncbi.nlm.nih.gov/pubmed/29531726
http://dx.doi.org/10.1002/ccr3.1233
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author Nabavi Nouri, Maryam
Lamhonwah, Anne‐Marie
Tein, Ingrid
author_facet Nabavi Nouri, Maryam
Lamhonwah, Anne‐Marie
Tein, Ingrid
author_sort Nabavi Nouri, Maryam
collection PubMed
description We present a 16‐year‐old girl with a unique clinical phenotype characterized by rapidly progressive exercise intolerance, transient exertional weakness, and progressive muscle cramps involving all limbs and bulbar muscles, following a first myoglobinuric episode at age 15 years, arising from homozygosity for a novel missense mutation (c.281G>C) in PYGM.
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spelling pubmed-58382692018-03-12 Novel myophosphorylase mutation (p.Arg94Pro) with progressive exercise intolerance Nabavi Nouri, Maryam Lamhonwah, Anne‐Marie Tein, Ingrid Clin Case Rep Case Reports We present a 16‐year‐old girl with a unique clinical phenotype characterized by rapidly progressive exercise intolerance, transient exertional weakness, and progressive muscle cramps involving all limbs and bulbar muscles, following a first myoglobinuric episode at age 15 years, arising from homozygosity for a novel missense mutation (c.281G>C) in PYGM. John Wiley and Sons Inc. 2018-01-28 /pmc/articles/PMC5838269/ /pubmed/29531726 http://dx.doi.org/10.1002/ccr3.1233 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs (http://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Nabavi Nouri, Maryam
Lamhonwah, Anne‐Marie
Tein, Ingrid
Novel myophosphorylase mutation (p.Arg94Pro) with progressive exercise intolerance
title Novel myophosphorylase mutation (p.Arg94Pro) with progressive exercise intolerance
title_full Novel myophosphorylase mutation (p.Arg94Pro) with progressive exercise intolerance
title_fullStr Novel myophosphorylase mutation (p.Arg94Pro) with progressive exercise intolerance
title_full_unstemmed Novel myophosphorylase mutation (p.Arg94Pro) with progressive exercise intolerance
title_short Novel myophosphorylase mutation (p.Arg94Pro) with progressive exercise intolerance
title_sort novel myophosphorylase mutation (p.arg94pro) with progressive exercise intolerance
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838269/
https://www.ncbi.nlm.nih.gov/pubmed/29531726
http://dx.doi.org/10.1002/ccr3.1233
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