Forskning
Udskriv Udskriv
Switch language
Rigshospitalet - en del af Københavns Universitetshospital
Udgivet

Muscle biopsy and MRI findings in ANO5-related myopathy

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Harvard

APA

CBE

MLA

Vancouver

Author

Bibtex

@article{fda1b8aa52854aa9adefdbad755ac7fb,
title = "Muscle biopsy and MRI findings in ANO5-related myopathy",
abstract = "INTRODUCTION/AIMS: Mutations in the anoctamin 5 (ANO5) gene are a common cause of muscular dystrophy. We aimed to investigate whether inflammatory changes in muscle are present in patients with ANO5 myopathy when assessed by muscle biopsy and muscle magnetic resonance imaging (MRI).METHODS: Adults with pathogenic variations in ANO5 known to cause muscular dystrophy were included in our study. Muscle biopsies of pelvic and lower extremity muscles were reviewed retrospectively. Muscle MR short-tau inversion recovery (STIR) images of a subset of these patients were obtained prospectively.RESULTS: Muscle biopsies from 24 patients were reviewed. MR STIR images were performed in 17 of these patients. We found inflammatory changes in muscle biopsies of three patients and MRI revealed hyperintense signals on STIR images in 14 of 17 patients.DISCUSSION: In this study, we found that muscle edema is very common in patients with ANO5 myopathy and that some patients have inflammatory changes in muscle biopsies. Further studies are needed to determine whether the STIR+ lesions reflect inflammation.",
author = "Sonja Holm-Yildiz and Nanna Witting and {de Stricker Borch}, Josefine and Konni Kass and Tahmina Khawajazada and Thomas Krag and John Vissing",
note = "{\textcopyright} 2021 Wiley Periodicals LLC.",
year = "2021",
month = dec,
doi = "10.1002/mus.27419",
language = "English",
volume = "64",
pages = "743--748",
journal = "Muscle and Nerve",
issn = "0148-639X",
publisher = "John/Wiley & Sons, Inc. John/Wiley & Sons Ltd",
number = "6",

}

RIS

TY - JOUR

T1 - Muscle biopsy and MRI findings in ANO5-related myopathy

AU - Holm-Yildiz, Sonja

AU - Witting, Nanna

AU - de Stricker Borch, Josefine

AU - Kass, Konni

AU - Khawajazada, Tahmina

AU - Krag, Thomas

AU - Vissing, John

N1 - © 2021 Wiley Periodicals LLC.

PY - 2021/12

Y1 - 2021/12

N2 - INTRODUCTION/AIMS: Mutations in the anoctamin 5 (ANO5) gene are a common cause of muscular dystrophy. We aimed to investigate whether inflammatory changes in muscle are present in patients with ANO5 myopathy when assessed by muscle biopsy and muscle magnetic resonance imaging (MRI).METHODS: Adults with pathogenic variations in ANO5 known to cause muscular dystrophy were included in our study. Muscle biopsies of pelvic and lower extremity muscles were reviewed retrospectively. Muscle MR short-tau inversion recovery (STIR) images of a subset of these patients were obtained prospectively.RESULTS: Muscle biopsies from 24 patients were reviewed. MR STIR images were performed in 17 of these patients. We found inflammatory changes in muscle biopsies of three patients and MRI revealed hyperintense signals on STIR images in 14 of 17 patients.DISCUSSION: In this study, we found that muscle edema is very common in patients with ANO5 myopathy and that some patients have inflammatory changes in muscle biopsies. Further studies are needed to determine whether the STIR+ lesions reflect inflammation.

AB - INTRODUCTION/AIMS: Mutations in the anoctamin 5 (ANO5) gene are a common cause of muscular dystrophy. We aimed to investigate whether inflammatory changes in muscle are present in patients with ANO5 myopathy when assessed by muscle biopsy and muscle magnetic resonance imaging (MRI).METHODS: Adults with pathogenic variations in ANO5 known to cause muscular dystrophy were included in our study. Muscle biopsies of pelvic and lower extremity muscles were reviewed retrospectively. Muscle MR short-tau inversion recovery (STIR) images of a subset of these patients were obtained prospectively.RESULTS: Muscle biopsies from 24 patients were reviewed. MR STIR images were performed in 17 of these patients. We found inflammatory changes in muscle biopsies of three patients and MRI revealed hyperintense signals on STIR images in 14 of 17 patients.DISCUSSION: In this study, we found that muscle edema is very common in patients with ANO5 myopathy and that some patients have inflammatory changes in muscle biopsies. Further studies are needed to determine whether the STIR+ lesions reflect inflammation.

UR - http://www.scopus.com/inward/record.url?scp=85116414722&partnerID=8YFLogxK

U2 - 10.1002/mus.27419

DO - 10.1002/mus.27419

M3 - Journal article

C2 - 34550615

VL - 64

SP - 743

EP - 748

JO - Muscle and Nerve

JF - Muscle and Nerve

SN - 0148-639X

IS - 6

ER -

ID: 70358171