Genetic Characterization of a French Cohort of GNE‐mutation negative inclusion body myopathy patients with exome sequencing

Cerino, Mathieu; Gorokhova, Svetlana; Laforêt, Pascal; Yaou, Rabah Ben; Salort‐Campana, Emmanuelle; Pouget, Jean; Attarian, Shahram; Eymard, B.; Deleuze, Jean‐François; Boland, Anne; Béhin, Anthony; Stojkovic, Tanya; Bonne, Gisèle; Lévy, Nicolas; Bartoli, Marc; Krahn, Martin

doi:10.1002/mus.25638

Cited by 6 publications

(1 citation statement)

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“…On the other hand, mitochondrial abnormalities, which were rare as previously described, were not uncommon (64%) in our cohort especially on ultrastructural studies. The overall features also mimicked inclusion body myopathy in two of our patients, consistent with that suggested by Cerino et al Of note, in three patients (21%) there was no detectable mitochondrial abnormality, abnormal inclusions or myofibrillar disruption, including two in which the biopsied specimen showed minimal pathology in the muscle fibers, indicating the possibility of sampling bias, biopsy in the early stage of the disease, as well as difficulty in diagnosing the condition without a high index of suspicion.…”

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confidence: 89%

Clinical and pathological characterization of FLNC‐related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese

et al. 2020

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FLNC-related myofibrillar myopathy could manifest as autosomal dominant late-onset slowly progressive proximal muscle weakness; involvements of cardiac and/or respiratory functions are common. We describe 34 patients in nine families of FLNCrelated myofibrillar myopathy in Hong Kong ethnic Chinese diagnosed over the last 12 years, in whom the same pathogenic variant c.8129G>A (p.Trp2710*) was detected. Twenty-six patients were symptomatic when diagnosed; four patients died

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Section: Discussionsupporting

confidence: 89%

Clinical and pathological characterization of FLNC‐related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese

et al. 2020

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A mutation update for the FLNC gene in myopathies and cardiomyopathies

et al. 2020

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Molecular insights into cardiomyopathies associated with desmin (DES) mutations

2018

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Increasing usage of next-generation sequencing techniques pushed during the last decade cardiogenetic diagnostics leading to the identification of a huge number of genetic variants in about 170 genes associated with cardiomyopathies, channelopathies, or syndromes with cardiac involvement. Because of the biochemical and cellular complexity, it is challenging to understand the clinical meaning or even the relevant pathomechanisms of the majority of genetic sequence variants. However, detailed knowledge about the associated molecular pathomechanism is essential for the development of efficient therapeutic strategies in future and genetic counseling. Mutations in DES, encoding the muscle-specific intermediate filament protein desmin, have been identified in different kinds of cardiac and skeletal myopathies. Here, we review the functions of desmin in health and disease with a focus on cardiomyopathies. In addition, we will summarize the genetic and clinical literature about DES mutations and will explain relevant cell and animal models. Moreover, we discuss upcoming perspectives and consequences of novel experimental approaches like genome editing technology, which might open a novel research field contributing to the development of efficient and mutation-specific treatment options.

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Genetic Characterization of a French Cohort of GNE‐mutation negative inclusion body myopathy patients with exome sequencing

Abstract: Next-generation sequencing is an efficient strategy in the context of hIBM, resulting in a molecular diagnosis for 35% of the patients initially undiagnosed by targeted GNE analysis. Muscle Nerve 56: 993-997, 2017.

Cited by 6 publications

References 29 publications

Clinical and pathological characterization of FLNC‐related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese

Clinical and pathological characterization of FLNC‐related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese

A mutation update for the FLNC gene in myopathies and cardiomyopathies

Molecular insights into cardiomyopathies associated with desmin (DES) mutations

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