因该基因复合杂合突变导致的脂质沉积性肌病：一例报告。 - Suppr

Lipid deposition myopathy due to compound heterozygous mutation in the gene: a case report.

作者信息

Li Yadan, Xiao Guangzhi, Fu Xianghui, Jia Junfeng, Zheng Zhaohui

机构信息

Department of Clinical Immunology, Xijing Hospital, Fourth Military Medical University, Xi'an, Shaanxi, China.

出版信息

Rheumatol Adv Pract. 2025 May 20;9(3):rkaf056. doi: 10.1093/rap/rkaf056. eCollection 2025.

DOI:10.1093/rap/rkaf056

PMID:40584934

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12202141/

Abstract

摘要

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Lipid deposition myopathy due to compound heterozygous mutation in the gene: a case report.

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本文引用的文献

Idiopathic inflammatory myopathies: current insights and future frontiers.

Lancet Rheumatol. 2024 Feb;6(2):e115-e127. doi: 10.1016/S2665-9913(23)00322-3.

Lipid storage myopathies: Current treatments and future directions.

Prog Lipid Res. 2018 Oct;72:1-17. doi: 10.1016/j.plipres.2018.08.001. Epub 2018 Aug 9.

Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations.

JIMD Rep. 2018;38:33-40. doi: 10.1007/8904_2017_27. Epub 2017 Apr 30.

A Historical Cohort Study on the Efficacy of Glucocorticoids and Riboflavin Among Patients with Late-onset Multiple Acyl-CoA Dehydrogenase Deficiency.

Chin Med J (Engl). 2016 Jan 20;129(2):142-6. doi: 10.4103/0366-6999.173438.

Fulminant lipid storage myopathy due to multiple acyl-coenzyme a dehydrogenase deficiency.

Muscle Nerve. 2015 Aug;52(2):289-93. doi: 10.1002/mus.24552. Epub 2015 Feb 11.

Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G>A.

J Mol Med (Berl). 2011 Jun;89(6):569-76. doi: 10.1007/s00109-011-0725-7. Epub 2011 Feb 24.

Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations.

J Neurol Neurosurg Psychiatry. 2010 Feb;81(2):231-6. doi: 10.1136/jnnp.2009.176404. Epub 2009 Sep 15.

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Lipid deposition myopathy due to compound heterozygous mutation in the gene: a case report.

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Lipid deposition myopathy due to compound heterozygous mutation in the gene: a case report.

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