X-linked Emery–Dreifuss muscular dystrophy manifesting with adult onset axial weakness, camptocormia, and minimal joint contractures

Brisset, Marion; Yaou, Rabah Ben; Carlier, Robert‐Yves; Chanut, Anaїs; Guillaume, Nicolas; Romero, Norma B.; Wahbi, Karim; Decrocq, Camille; Leturcq, F.; Laforêt, Pascal; Malfatti, Edoardo

doi:10.1016/j.nmd.2019.06.009

Cited by 7 publications

(7 citation statements)

References 21 publications

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“…13 Our patient diverged from the original description of the pediatric cases 8 by the absence of sparing of medial gastrocnemius, while confirming the involvement of the peroneus and the sparing of rectus femoris and gracilis. 5,9,12 Therefore, we confirm that the presence of anterolateral leg compartment involvement should raise the suspicion of mutations in EMD rather than in LMNA in a patient with a suggestive phenotype.…”

Section: Discussionsupporting

confidence: 72%

“…8 However, later studies have reported EDMD1 patients with medial gastrocnemius involvement. 5,9 Here, we report a EDMD1 13-year-old boy with minor cardiac rhythm abnormalities and a peculiar MRI which not entirely recapitulates what have been reported in previous MRI series, highlighting the need for muscle MRI studies on larger EDMDs cohorts to better define a possible disease pattern.…”

Section: Introductionmentioning

confidence: 55%

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Early Muscle MRI Findings in a Pediatric Case of Emery-Dreifuss Muscular Dystrophy Type 1

et al. 2023

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Emery-Dreifuss muscular dystrophy (EDMD) is a rare disease characterized by early contractures, progressive muscle weakness, and cardiac abnormalities. Different subtypes of EDMD have been described, with the two most common forms represented by the X-linked EDMD1, caused by mutations in the EMD gene encoding emerin, and the autosomal EDMD2, due to mutations in the LMNA gene encoding lamin A/C. A clear definition of the magnetic resonance imaging (MRI) pattern in the two forms, and especially in the rarer EDMD1, is still lacking, although a preferential involvement of the medial head of the gastrocnemius has been suggested in EDMD2. We report a 13-year-old boy with mild limb girdle muscle weakness, elbow and ankle contractures, with absence of emerin at muscle biopsy, carrying a hemizygous frameshift mutation on the EMD gene (c.153dupC/p.Ser52Glufs*9) of maternal inheritance. Minor cardiac rhythm abnormalities were detected at 24-hour Holter electrocardiogram and required β-blocker therapy. MRI scan of the thighs showed a mild diffuse involvement, while tibialis anterior, extensor digitorum longus, peroneus longus, and medial gastrocnemius were the most affected muscles in the leg. We also provide a review of the muscular MRI data in EDMD patients and highlight the relative heterogeneity of the MRI patterns found in EDMDs, suggesting that muscle MRI should be studied in larger EDMD cohorts to better define disease patterns and to cover the wide disease spectrum.

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Section: Discussionsupporting

confidence: 72%

Section: Introductionmentioning

confidence: 55%

Early Muscle MRI Findings in a Pediatric Case of Emery-Dreifuss Muscular Dystrophy Type 1

et al. 2023

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“…Previous study found a nonsense mutation in EMD from two EDMD families which is associated with X-linked recessive inheritance, result in serious cardiac complication, including AF (Sakata et al, 2005). Cardiologic assessment revealed slow atrial fibrillation in a recent case of a 65-year-old male patient with a hemizygous duplication of 5 bases in exon 6 of the EMD, gene on the X chromosome (Kissel et al, 2009;Zhao et al, 2014;Brisset et al, 2019).…”

Section: Discussionmentioning

confidence: 94%

The Joint Analysis of Multi-Omics Data Revealed the Methylation-Expression Regulations in Atrial Fibrillation

Liu

Shi

Ding

et al. 2020

Front. Bioeng. Biotechnol.

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Atrial fibrillation (AF) is one of the most prevalent heart rhythm disorder. The causes of AF include age, male sex, diabetes, hypertension, valve disease, and systolic/diastolic dysfunction. But on molecular level, its mechanisms are largely unknown. In this study, we collected 10 patients with persistent atrial fibrillation, 10 patients with paroxymal atrial fibrillation and 10 healthy individuals and did Methylation EPICBead Chip and RNA sequencing. By analyzing the methylation and gene expression data using machine learning based feature selection method Boruta, we identified the key genes that were strongly associated with AF and found their interconnections. The results suggested that the methylation of KIF15 may regulate the expression of PSMC3, TINAG, and NUDT6. The identified AF associated methylation-expression regulations may help understand the molecular mechanisms of AF from a multi-omics perspective.

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“…In the field of tissue engineering, the use of biocompatible scaffolds has increased in recent years [ 22 ]. The ability to self-renew, the proliferation potential, and the multipotency of ADSCs make them attractive for regenerative medicine applications [ 23 , 24 ].…”

Section: Discussionmentioning

confidence: 99%

Comprehensive Analysis of Novel Genes and Pathways Associated with Osteogenic Differentiation of Adipose Stem Cells

Gao

2022

Disease Markers

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Background. Adipose-derived stem cells (ADSCs) are an important alternative source of mesenchymal stem cells (MSCs) and show great promise in tissue engineering and regenerative medicine applications. However, identifying the novel genes and pathways and finding the underlying mechanisms regulating ADSCs osteogenic differentiation remain urgent. Methods. We downloaded the gene expression profiles of GSE63754 and GSE37329 from the Gene Expression Omnibus (GEO) Database. We derived differentially expressed genes (DEGs) before and after ADSC osteogenic differentiation, followed by Gene Ontology (GO) functional and KEGG pathway analysis and protein-protein interaction (PPI) network analysis. 211 differentially expressed genes (142 upregulated genes and 69 downregulated genes) were aberrantly expressed. GO analysis revealed that these DEGs were associated with extracellular matrix organization, protein extracellular matrix, and semaphorin receptor binding. Conclusions. Our study provides novel genes and pathways that play important roles in regulating ADSC osteogenic differentiation, which may have potential therapeutic targets for clinic.

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X-linked Emery–Dreifuss muscular dystrophy manifesting with adult onset axial weakness, camptocormia, and minimal joint contractures

Cited by 7 publications

References 21 publications

Early Muscle MRI Findings in a Pediatric Case of Emery-Dreifuss Muscular Dystrophy Type 1

Early Muscle MRI Findings in a Pediatric Case of Emery-Dreifuss Muscular Dystrophy Type 1

The Joint Analysis of Multi-Omics Data Revealed the Methylation-Expression Regulations in Atrial Fibrillation

Comprehensive Analysis of Novel Genes and Pathways Associated with Osteogenic Differentiation of Adipose Stem Cells

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