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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A novel compound heterozygous variant in LAMA2 gene in a family with merosin-deficient congenital muscular dystrophy [PDF]
BMC Medical GenomicsLAMA2 encodes the alpha-2 subunit of a protein called Laminin. It consists of three subunits Y; alpha, beta and gamma. Alpha2 subunit from LAMA2 gene along with beta-2 and gamma-2 forms laminin-2 protein.
Parham Nejati +6 more
doaj +4 more sources
Broadening the paradigm of laminin α2-related muscular dystrophy: A case of partial merosin deficiency with compound heterozygous variants [PDF]
SAGE Open Medical Case ReportsLaminin α2-related muscular dystrophy is a rare autosomal recessive condition caused by mutations in the LAMA2 gene, with clinical presentations ranging from severe congenital forms to milder phenotypes resembling limb-girdle muscular dystrophy.
Azita Tavasoli +3 more
doaj +3 more sources
Congenital muscular dystrophy type 1A with residual merosin expression [PDF]
Korean Journal of Pediatrics, 2014 Congenital muscular dystrophy type 1A (MDC1A) is an autosomal recessive disorder characterized by hypotonia, elevated serum creatine kinase level, delayed motor milestones, white matter changes observed by brain magnetic resonance imaging, and normal ...
Hyo Jeong Kim +6 more
doaj +2 more sources
A Novel Frameshift Mutation in Two Siblings with Merosin-deficient Congenital Muscular Dystrophy
Haseki Tıp Bülteni, 2020 We present two siblings with elevated serum creatine kinase concentrations, developmental delay, muscle weakness, and contractures of the lower limbs. Cranial magnetic resonance imaging revealed diffuse white matter hyperintensity in both siblings.
Senem Ayça +3 more
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Partial Merosin Deficiency and Precocious Puberty [PDF]
Electronic Journal of General Medicine, 2015 The congenital muscular dystrophies (CMD) are autosomal-recessive disorders. Classical congenital muscular dystrophy is grouped as merosin-positive and merosin-negative (MN-CMD). Precocious puberty in girls has been defined by Marshal and Tanner in 1969.
EKLİOGLU, Beray Selver +3 more
openaire +4 more sources
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
doaj +3 more sources
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
doaj +2 more sources
Muscle transcriptome profiling reveals novel molecular pathways and biomarkers in laminin-α2 deficient patients [PDF]
Acta Neuropathologica CommunicationsMerosin-deficient congenital muscular dystrophy (LAMA2-RD) is a neuromuscular disorder caused by mutations in the LAMA2 gene, coding for the α2 subunit of laminin-211 (merosin).
Veronica Pini +5 more
doaj +2 more sources
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
doaj +2 more sources