Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern

ABSTRACT Introduction: The aim of this study was to delineate the spectrum of muscle involvement in patients with a myopathy due to mutations in SEPN1 (SEPN1‐RM). Methods: Whole‐body magnetic resonance imaging (WBMRI) was used in 9 patients using T1‐weighted turbo spin–echo (T1‐TSE) sequences and sh...

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Published in	Muscle & nerve Vol. 52; no. 5; pp. 728 - 735
Main Authors	Hankiewicz, Karolina, Carlier, Robert Y., Lazaro, Leila, Linzoain, Javier, Barnerias, Christine, Gómez-Andrés, David, Avila-Smirnow, Daniela, Ferreiro, Ana, Estournet, Brigitte, Guicheney, Pascale, Germain, Dominique P., Richard, Pascale, Bulacio, Sebastian, Mompoint, Dominique, Quijano-Roy, Susana
Format	Journal Article
Language	English
Published	United States Blackwell Publishing Ltd 01.11.2015 Wiley Subscription Services, Inc
Subjects	Adolescent Child Female genetics heatmap analysis Humans magnetic resonance imaging Magnetic Resonance Imaging - methods Male MRI Muscle Proteins - genetics Muscular Diseases - diagnosis Muscular Diseases - genetics myopathy NMR Nuclear magnetic resonance pediatrics Selenoproteins - genetics Weightlifting Whole Body Imaging - methods Young Adult magnetic resonance imaging genetics MRI myopathy heatmap analysis pediatrics
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ISSN	0148-639X 1097-4598
DOI	10.1002/mus.24634

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Abstract	ABSTRACT Introduction: The aim of this study was to delineate the spectrum of muscle involvement in patients with a myopathy due to mutations in SEPN1 (SEPN1‐RM). Methods: Whole‐body magnetic resonance imaging (WBMRI) was used in 9 patients using T1‐weighted turbo spin–echo (T1‐TSE) sequences and short tau inversion recovery (STIR) in 5 patients. Results: Analysis of signal and volume abnormalities by T1‐TSE sequences in 109 muscles showed a homogeneous pattern characterized by a recognizable combination of atrophy and signal abnormalities in selected muscles of the neck, trunk, pelvic girdle, and lower limbs. Severe wasting of sternocleidomastoid muscle and atrophy of semimembranosus were detected. Selective paraspinal, gluteus maximus, and thigh muscle involvement was also observed. The lower leg was less constantly affected. Conclusions: WBMRI scoring of altered signal and atrophy in muscle can be represented by heatmaps and is associated with a homogeneous, recognizable pattern in SEPN1‐RM, distinct from other genetic muscle diseases. Muscle Nerve 52: 728–735, 2015
AbstractList	ABSTRACT Introduction: The aim of this study was to delineate the spectrum of muscle involvement in patients with a myopathy due to mutations in SEPN1 (SEPN1‐RM). Methods: Whole‐body magnetic resonance imaging (WBMRI) was used in 9 patients using T1‐weighted turbo spin–echo (T1‐TSE) sequences and short tau inversion recovery (STIR) in 5 patients. Results: Analysis of signal and volume abnormalities by T1‐TSE sequences in 109 muscles showed a homogeneous pattern characterized by a recognizable combination of atrophy and signal abnormalities in selected muscles of the neck, trunk, pelvic girdle, and lower limbs. Severe wasting of sternocleidomastoid muscle and atrophy of semimembranosus were detected. Selective paraspinal, gluteus maximus, and thigh muscle involvement was also observed. The lower leg was less constantly affected. Conclusions: WBMRI scoring of altered signal and atrophy in muscle can be represented by heatmaps and is associated with a homogeneous, recognizable pattern in SEPN1‐RM, distinct from other genetic muscle diseases. Muscle Nerve 52: 728–735, 2015 The aim of this study was to delineate the spectrum of muscle involvement in patients with a myopathy due to mutations in SEPN1 (SEPN1-RM). Whole-body magnetic resonance imaging (WBMRI) was used in 9 patients using T1-weighted turbo spin-echo (T1-TSE) sequences and short tau inversion recovery (STIR) in 5 patients. Analysis of signal and volume abnormalities by T1-TSE sequences in 109 muscles showed a homogeneous pattern characterized by a recognizable combination of atrophy and signal abnormalities in selected muscles of the neck, trunk, pelvic girdle, and lower limbs. Severe wasting of sternocleidomastoid muscle and atrophy of semimembranosus were detected. Selective paraspinal, gluteus maximus, and thigh muscle involvement was also observed. The lower leg was less constantly affected. WBMRI scoring of altered signal and atrophy in muscle can be represented by heatmaps and is associated with a homogeneous, recognizable pattern in SEPN1-RM, distinct from other genetic muscle diseases. Introduction: The aim of this study was to delineate the spectrum of muscle involvement in patients with a myopathy due to mutations in SEPN1 (SEPN1‐RM). Methods: Whole‐body magnetic resonance imaging (WBMRI) was used in 9 patients using T1‐weighted turbo spin–echo (T1‐TSE) sequences and short tau inversion recovery (STIR) in 5 patients. Results: Analysis of signal and volume abnormalities by T1‐TSE sequences in 109 muscles showed a homogeneous pattern characterized by a recognizable combination of atrophy and signal abnormalities in selected muscles of the neck, trunk, pelvic girdle, and lower limbs. Severe wasting of sternocleidomastoid muscle and atrophy of semimembranosus were detected. Selective paraspinal, gluteus maximus, and thigh muscle involvement was also observed. The lower leg was less constantly affected. Conclusions: WBMRI scoring of altered signal and atrophy in muscle can be represented by heatmaps and is associated with a homogeneous, recognizable pattern in SEPN1‐RM, distinct from other genetic muscle diseases. Muscle Nerve 52 : 728–735, 2015 INTRODUCTIONThe aim of this study was to delineate the spectrum of muscle involvement in patients with a myopathy due to mutations in SEPN1 (SEPN1-RM).METHODSWhole-body magnetic resonance imaging (WBMRI) was used in 9 patients using T1-weighted turbo spin-echo (T1-TSE) sequences and short tau inversion recovery (STIR) in 5 patients.RESULTSAnalysis of signal and volume abnormalities by T1-TSE sequences in 109 muscles showed a homogeneous pattern characterized by a recognizable combination of atrophy and signal abnormalities in selected muscles of the neck, trunk, pelvic girdle, and lower limbs. Severe wasting of sternocleidomastoid muscle and atrophy of semimembranosus were detected. Selective paraspinal, gluteus maximus, and thigh muscle involvement was also observed. The lower leg was less constantly affected.CONCLUSIONSWBMRI scoring of altered signal and atrophy in muscle can be represented by heatmaps and is associated with a homogeneous, recognizable pattern in SEPN1-RM, distinct from other genetic muscle diseases. Introduction: The aim of this study was to delineate the spectrum of muscle involvement in patients with a myopathy due to mutations in SEPN1 (SEPN1-RM). Methods: Whole-body magnetic resonance imaging (WBMRI) was used in 9 patients using T1-weighted turbo spin-echo (T1-TSE) sequences and short tau inversion recovery (STIR) in 5 patients. Results: Analysis of signal and volume abnormalities by T1-TSE sequences in 109 muscles showed a homogeneous pattern characterized by a recognizable combination of atrophy and signal abnormalities in selected muscles of the neck, trunk, pelvic girdle, and lower limbs. Severe wasting of sternocleidomastoid muscle and atrophy of semimembranosus were detected. Selective paraspinal, gluteus maximus, and thigh muscle involvement was also observed. The lower leg was less constantly affected. Conclusions: WBMRI scoring of altered signal and atrophy in muscle can be represented by heatmaps and is associated with a homogeneous, recognizable pattern in SEPN1-RM, distinct from other genetic muscle diseases. Muscle Nerve 52: 728-735, 2015
Author	Bulacio, Sebastian Linzoain, Javier Avila-Smirnow, Daniela Germain, Dominique P. Mompoint, Dominique Gómez-Andrés, David Estournet, Brigitte Hankiewicz, Karolina Guicheney, Pascale Quijano-Roy, Susana Lazaro, Leila Carlier, Robert Y. Barnerias, Christine Ferreiro, Ana Richard, Pascale
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Snippet	ABSTRACT Introduction: The aim of this study was to delineate the spectrum of muscle involvement in patients with a myopathy due to mutations in SEPN1... Introduction: The aim of this study was to delineate the spectrum of muscle involvement in patients with a myopathy due to mutations in SEPN1 (SEPN1‐RM).... The aim of this study was to delineate the spectrum of muscle involvement in patients with a myopathy due to mutations in SEPN1 (SEPN1-RM). Whole-body magnetic... Introduction: The aim of this study was to delineate the spectrum of muscle involvement in patients with a myopathy due to mutations in SEPN1 (SEPN1-RM).... INTRODUCTIONThe aim of this study was to delineate the spectrum of muscle involvement in patients with a myopathy due to mutations in SEPN1...
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SubjectTerms	Adolescent Child Female genetics heatmap analysis Humans magnetic resonance imaging Magnetic Resonance Imaging - methods Male MRI Muscle Proteins - genetics Muscular Diseases - diagnosis Muscular Diseases - genetics myopathy NMR Nuclear magnetic resonance pediatrics Selenoproteins - genetics Weightlifting Whole Body Imaging - methods Young Adult
Title	Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern
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