Evidence of Two Novel LAMA2 Variants in a Patient With Muscular Dystrophy: Facing the Challenges of a Certain Diagnosis [PDF]
Frontiers in Neurology, 2022 BackgroundBenefits and challenges resulting from advances in genetic diagnostics are two sides of the same coin. Facilitation of a correct and timely diagnosis is paralleled by challenges in interpretation of variants of unknown significance (VUS ...
Stefanie Meyer +10 more
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Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant [PDF]
Frontiers in Neurology, 2023 Recessive pathogenic variants in the laminin subunit alpha 2 (LAMA2) gene cause a spectrum of disease ranging from severe congenital muscular dystrophy to later-onset limb girdle muscular dystrophy (LGMDR23).
Matthew Katz +16 more
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Merosin-positive congenital muscular dystrophy: neuroimaging findings Distrofia muscular congênita merosina-positiva: achados de neuroimagem [PDF]
Arquivos de Neuro-Psiquiatria, 2007 Congenital muscle dystrophy (CMD) is a heterogeneous group of autosomal recessive myopathies. It is known that CMD may affect the central nervous system (CNS).
André Palma da Cunha Matta +1 more
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Análise da expressão do colágeno VI na distrofia muscular congênita Analysis of the expression of collagen VI in congenital muscular dystrophy [PDF]
Arquivos de Neuro-Psiquiatria, 2005 A distrofia muscular congênita (DMC) compõe um grupo de miopatias caracterizadas por hipotonia e fraqueza muscular notadas já no primeiro ano de vida.
Regina Toni Loureiro de Freitas +3 more
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Эпилепсия и пароксизмальные состоянияBackground. Merosin-deficient muscular dystrophy (MDMD) is a neuromuscular disease resulting from the emergence of biallelic variants in the LAMA2 gene and manifested by progressive muscle weakness, diffuse hypotonia, impaired posture, contractures of ...
A. V. Monakhova +2 more
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Natural disease history of the dy2J mouse model of laminin α2 (merosin)-deficient congenital muscular dystrophy. [PDF]
PLoS ONE, 2018 Merosin deficient congenital muscular dystrophy 1A (MDC1A) is a very rare autosomal recessive disorder caused by mutations in the LAMA2 gene leading to severe and progressive muscle weakness and atrophy.
S Pasteuning-Vuhman +8 more
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A novel early onset phenotype in a zebrafish model of merosin deficient congenital muscular dystrophy. [PDF]
PLoS ONE, 2017 Merosin deficient congenital muscular dystrophy (MDC1A) is a severe neuromuscular disorder with onset in infancy that is associated with severe morbidities (particularly wheelchair dependence) and early mortality.
Sarah J Smith +3 more
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Modulation of oligodendrocyte differentiation by mechanotransduction [PDF]
Frontiers in Cellular Neuroscience, 2016 Oligodendrocytes (OLs) are responsible for the myelination of axons in the central nervous system. The differentiation of OLs encompasses several stages, through which cells undergo dramatic biochemical and morphological changes.
Tânia Lourenço +3 more
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Human Pathology: Case Reports, 2016 Peripheral neuropathy, white matter abnormalities, and cardiomyopathy are associated findings with merosin-deficient congenital muscular dystrophy.
Erika Hissong, M.D. +3 more
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Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of LAMA2 gene [PDF]
Frontiers in Pediatrics, 2023 IntroductionMutations of LAMA2 gene are associated with congenital muscular dystrophy (CMD). The LAMA2-related CMD mainly consists of two diseases, merosin deficient congenital muscular dystrophies type 1A (MDC1A) and limb girdle muscular dystrophy 23 ...
Yuqing Xu +6 more
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