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Dysferlin-Deficient Muscular Dystrophy Identified Through Laboratory Testing for Elevated Aminotransferases
We present a 24-year-old combat veteran who underwent extensive work-up for elevated aminotransferases, including liver biopsy, with no underlying pathology identified. Subsequent investigations showed elevated creatinine kinase and aldolase. The patient was later diagnosed with biopsy-proven dysfer...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American College of Gastroenterology
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4748204/ https://www.ncbi.nlm.nih.gov/pubmed/26958568 http://dx.doi.org/10.14309/crj.2016.22 |
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author | Aasen, Tyler Achdjian, Houry Usta, Yousef Nanda, Rakesh |
author_facet | Aasen, Tyler Achdjian, Houry Usta, Yousef Nanda, Rakesh |
author_sort | Aasen, Tyler |
collection | PubMed |
description | We present a 24-year-old combat veteran who underwent extensive work-up for elevated aminotransferases, including liver biopsy, with no underlying pathology identified. Subsequent investigations showed elevated creatinine kinase and aldolase. The patient was later diagnosed with biopsy-proven dysferlin-deficient muscular dystrophy. Persistent transaminase elevation despite negative liver work-up should prompt clinicians to consider extrahepatic sources of enzyme elevation. Promptly correlating aminotransferase elevation with musculoskeletal pathology may present an opportunity for clinicians to detect myopathies such as muscular dystrophy in their preclinical stages. |
format | Online Article Text |
id | pubmed-4748204 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | American College of Gastroenterology |
record_format | MEDLINE/PubMed |
spelling | pubmed-47482042016-03-08 Dysferlin-Deficient Muscular Dystrophy Identified Through Laboratory Testing for Elevated Aminotransferases Aasen, Tyler Achdjian, Houry Usta, Yousef Nanda, Rakesh ACG Case Rep J Case Report We present a 24-year-old combat veteran who underwent extensive work-up for elevated aminotransferases, including liver biopsy, with no underlying pathology identified. Subsequent investigations showed elevated creatinine kinase and aldolase. The patient was later diagnosed with biopsy-proven dysferlin-deficient muscular dystrophy. Persistent transaminase elevation despite negative liver work-up should prompt clinicians to consider extrahepatic sources of enzyme elevation. Promptly correlating aminotransferase elevation with musculoskeletal pathology may present an opportunity for clinicians to detect myopathies such as muscular dystrophy in their preclinical stages. American College of Gastroenterology 2016-01-20 /pmc/articles/PMC4748204/ /pubmed/26958568 http://dx.doi.org/10.14309/crj.2016.22 Text en Copyright © Aasen et al. This is an open-access article. This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/ |
spellingShingle | Case Report Aasen, Tyler Achdjian, Houry Usta, Yousef Nanda, Rakesh Dysferlin-Deficient Muscular Dystrophy Identified Through Laboratory Testing for Elevated Aminotransferases |
title | Dysferlin-Deficient Muscular Dystrophy Identified Through Laboratory Testing for Elevated Aminotransferases |
title_full | Dysferlin-Deficient Muscular Dystrophy Identified Through Laboratory Testing for Elevated Aminotransferases |
title_fullStr | Dysferlin-Deficient Muscular Dystrophy Identified Through Laboratory Testing for Elevated Aminotransferases |
title_full_unstemmed | Dysferlin-Deficient Muscular Dystrophy Identified Through Laboratory Testing for Elevated Aminotransferases |
title_short | Dysferlin-Deficient Muscular Dystrophy Identified Through Laboratory Testing for Elevated Aminotransferases |
title_sort | dysferlin-deficient muscular dystrophy identified through laboratory testing for elevated aminotransferases |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4748204/ https://www.ncbi.nlm.nih.gov/pubmed/26958568 http://dx.doi.org/10.14309/crj.2016.22 |
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