A Revisited Diagnosis of Collagen VI Related Muscular Dystrophy in a Patient with a Novel COL6A2 Variant and 21q22.3 Deletion.
Sign Up to like & getrecommendations! Published in 2020 at "Neuropediatrics"
DOI: 10.1055/s-0040-1714125
Abstract: The genetic etiology of collagen VI related muscular dystrophies is heterogenous. Genomic deletions in one allele involving COL6A2 or both COL6A1 and COL6A2 unmasking a pathogenic variant in the second nondeleted allele have been described… read more here.
Keywords: collagen related; etiology; related muscular; col6a2 ... See more keywords
Diffuse Anaplastic Wilms Tumor in a Child With LAMA2-related Muscular Dystrophy
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DOI: 10.1097/mph.0000000000002503
Abstract: Laminin alpha-2-related muscular dystrophy (LAMA2-MD), caused by mutations in the LAMA2 gene, is inherited in an autosomal recessive manner. There is no known association of LAMA2-MD with cancer predisposition. We present a 4-year-old female with… read more here.
Keywords: oncology; lama2; muscular dystrophy; related muscular ... See more keywords
LAMA2-related muscular dystrophy mimicking multiple sclerosis
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DOI: 10.1136/bcr-2022-249061
Abstract: Laminin-alpha2-related muscular dystrophy (LAMA2-MD) is a genetic condition due to reduced LAMA2, a protein found throughout the nervous system. Late-onset LAMA2-MD may present with proximal muscle weakness, joint contractures, neuropathy, epilepsy and/or cardiorespiratory issues, and… read more here.
Keywords: related muscular; multiple sclerosis; muscular dystrophy; lama2 ... See more keywords
Characterization of cardiac involvement in children with LMNA-related muscular dystrophy
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DOI: 10.3389/fcell.2023.1142937
Abstract: Introduction: LMNA-related muscular dystrophy is a rare entity that produce “laminopathies” such as Emery–Dreifuss muscular dystrophy (EDMD), limb–girdle muscular dystrophy type 1B (LGMD1B), and LMNA-related congenital muscular dystrophy (L-CMD). Heart failure, malignant arrhythmias, and sudden… read more here.
Keywords: dystrophy; lmna related; muscular dystrophy; related muscular ... See more keywords
The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy
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DOI: 10.3390/ijms23147651
Abstract: Collagen VI-related disorders (COL6-RD) represent a severe form of congenital disease for which there is no treatment. Dominant-negative pathogenic variants in the genes encoding α chains of collagen VI are the main cause of COL6-RD.… read more here.
Keywords: collagen; collagen related; muscular dystrophy; related muscular ... See more keywords