ArticleJournal of neuromuscular diseases2015
Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases.
Article in Journal of neuromuscular diseases, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 31 citations in OpenAlex.
- AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase 1 deficiency (PGM1-CDG).Translational research : the journal of laboratory and clinical medicine · 2023Article
- Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations ofFrontiers in pediatrics · 2023Article
- Repositioning Drugs for Rare Diseases Based on Biological Features and Computational Approaches.Healthcare (Basel, Switzerland) · 2022Article
- Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort.Journal of neurology · 2022Article
- Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin-deficient congenital muscular dystrophy type 1A.Journal of clinical laboratory analysis · 2021Article
- Cellular pathology of the human heart in Duchenne muscular dystrophy (DMD): lessons learned from in vitro modeling.Pflugers Archiv : European journal of physiology · 2021Review
- Impact of Intrinsic Muscle Weakness on Muscle-Bone Crosstalk in Osteogenesis Imperfecta.International journal of molecular sciences · 2021Review
- NMRK2 Gene Is Upregulated in Dilated Cardiomyopathy and Required for Cardiac Function and NAD Levels during Aging.International journal of molecular sciences · 2021Article
- Novel Homozygous Pathogenic Mutations of LAMA 2 Gene in Patients with Congen ital Muscular Dystrophy.Iranian journal of child neurology · 2021Article
- LAMA2-related muscular dystrophy: Natural history of a large pediatric cohort.Annals of clinical and translational neurology · 2020Article
- Whole Exome Sequencing as a Diagnostic Tool for Unidentified Muscular Dystrophy in a Vietnamese Family.Diagnostics (Basel, Switzerland) · 2020Article
- Anesthetic Care of a Child With Merosin-Deficient Muscular Dystrophy.Journal of medical cases · 2020Article
- Extracellular Control of Radial Glia Proliferation and Scaffolding During Cortical Development and Pathology.Frontiers in cell and developmental biology · 2020Review
- LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness.Frontiers in molecular neuroscience · 2020Review
- Early skeletal muscle pathology and disease progress in the dyScientific reports · 2019Article
- Rare variant inActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2019Article
- A Homozygous LAMA2 Mutation of c.818G>A Caused Partial Merosin Deficiency in a Japanese Patient.Internal medicine (Tokyo, Japan) · 2018Article
- The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.Journal of human genetics · 2017Article
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Authors and funding
13 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundLaminin α2 deficient congenital muscular dystrophy, caused by mutations in the LAMA2 gene, is characterized by early muscle weakness associated with abnormal white matter signal on cerebral MRI.
objectiveTo report on 4 patients with LAMA2 gene mutations whose original clinical features complicated the diagnosis strategy.
methodsClinical, electrophysiological, muscle imaging and histopathological data were retrospectively collected from all patients. DNA samples were analysed by next-generation sequencing or direct gene sequencing. Laminin α2 was analysed by western-blot and immunohistochemistry.
resultsThe four patients achieved independent walking. All had proximal muscle weakness with scapular winging and prominent joint contractures without peripheral neuropathy. During follow-up, two patients suffered from refractory epilepsy associated with brain leukoencephalopathy in one, polymicrogyria and lissencephaly without white matter changes in the other. In two patients, the distribution of fatty infiltration resembles that of collagen-VI related myopathies. Dilated cardiomyopathy contstartabstractwith conduction defects, suggestive of Emery-Dreifuss myopathy, emerged in two of them within the 4th decade. Molecular diagnosis remained elusive for many years. Finally, targeted capture-DNA sequencing unveiled the involvement of the LAMA2 gene in two families, and led us to further identify LAMA2 mutations in the remaining family using Sanger sequencing.
conclusionsThis report extends the clinical and radiological features of partial Laminin α2 deficiency since patients showed atypical manifestations including dilated cardiomyopathy with conduction defects in 2, epilepsy in 2, one of whom also had sole cortical brain abnormalities. Importantly, clinical findings and muscle imaging initially pointed to collagen-VI related disorders and Emery-Dreifuss muscular dystrophy.
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