贝思伦肌病中的肌肉超声检查 - Suppr

Suppr

超能文献

Muscle ultrasound in Bethlem myopathy.

作者信息

Bönnemann C G, Brockmann K, Hanefeld F

出版信息

Neuropediatrics. 2003 Dec;34(6):335-6. doi: 10.1055/s-2003-44665.

DOI:10.1055/s-2003-44665

PMID:14681763

Abstract

摘要

相似文献

Muscle ultrasound in Bethlem myopathy.

Neuropediatrics. 2003 Dec;34(6):335-6. doi: 10.1055/s-2003-44665.

[Ultrasound in evaluation of soft tissue lesions of the musculoskeletal system].

Harefuah. 1997 Sep;133(5-6):212-5.

[Sonographic evaluation of myopathy].

Brain Nerve. 2014 Mar;66(3):247-57.

Dynamic muscle ultrasound conquers another domain of needle EMG, the detection of fibrillations.

Clin Neurophysiol. 2009 May;120(5):843-4. doi: 10.1016/j.clinph.2009.03.002. Epub 2009 Apr 5.

Ultrasound of skeletal muscle injury: an update.

Semin Ultrasound CT MR. 2011 Apr;32(2):91-100. doi: 10.1053/j.sult.2010.12.002.

Sonography of muscle hernias.

AJR Am J Roentgenol. 2003 Feb;180(2):395-9. doi: 10.2214/ajr.180.2.1800395.

Novel dysferlin mutations and characteristic muscle atrophy in late-onset Miyoshi myopathy.

Muscle Nerve. 2004 May;29(5):721-3. doi: 10.1002/mus.20025.

Gluteus maximus hypertrophy: A diagnostic clue in four and a half LIM domain 1-mutated reducing body myopathy.

Neuromuscul Disord. 2017 Oct;27(10):962-963. doi: 10.1016/j.nmd.2017.06.014. Epub 2017 Jun 23.

Usefulness of high-frequency sonography for the diagnosis of asymptomatic myopathy in Löfgren's syndrome.

Int J Dermatol. 2014 Jan;53(1):e62-3. doi: 10.1111/j.1365-4632.2012.05489.x. Epub 2013 Mar 3.

Ultrasound of muscle abnormalities.

Ultrasound Q. 2005 Jun;21(2):87-94; quiz 150, 153-4.

引用本文的文献

Multimodal Evaluation of Bethlem Myopathy with the c.788G > A Variant in the COL6A1 Gene: a case report with genetic, ultrasonographic, and structural-functional discordance correlations.

Acta Myol. 2025 Jun;44(2):57-61. doi: 10.36185/2532-1900-1028.

Myopathic Ehlers-Danlos Syndrome (mEDS) Related to : Two Novel Families and Literature Review.

Int J Mol Sci. 2025 Jun 4;26(11):5387. doi: 10.3390/ijms26115387.

The recurrent deep intronic pseudoexon-inducing variant c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.

medRxiv. 2024 Mar 29:2024.03.29.24304673. doi: 10.1101/2024.03.29.24304673.

Early Morphological Changes of the Rectus Femoris Muscle and Deep Fascia in Ullrich Congenital Muscular Dystrophy.

Int J Environ Res Public Health. 2022 Jan 23;19(3):1252. doi: 10.3390/ijerph19031252.

Evaluating a Muscle Ultrasound Education Program: Theoretical Knowledge, Hands-on Skills, Reliability, and Satisfaction of Critical Care Physiotherapists.

Arch Rehabil Res Clin Transl. 2021 Jul 13;3(3):100142. doi: 10.1016/j.arrct.2021.100142. eCollection 2021 Sep.

Neuromuscular ultrasound in clinical practice: A review.

Clin Neurophysiol Pract. 2019 Jul 12;4:148-163. doi: 10.1016/j.cnp.2019.04.006. eCollection 2019.

Dominant collagen XII mutations cause a distal myopathy.

Ann Clin Transl Neurol. 2019 Oct;6(10):1980-1988. doi: 10.1002/acn3.50882. Epub 2019 Sep 11.

Whole-body MRI and pathological findings in adult patients with myopathies.

Skeletal Radiol. 2019 May;48(5):653-676. doi: 10.1007/s00256-018-3107-1. Epub 2018 Oct 30.

Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.

Hum Mutat. 2015 Jan;36(1):48-56. doi: 10.1002/humu.22691.

Diagnostic approach to the congenital muscular dystrophies.

Neuromuscul Disord. 2014 Apr;24(4):289-311. doi: 10.1016/j.nmd.2013.12.011. Epub 2014 Jan 9.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验