Research articleAbnormal localization of laminin subunits in muscular dystrophies
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The role of laminins in the organization and function of neuromuscular junctions
2017, Matrix BiologyCitation Excerpt :Cerebral white matter abnormalities have been found by magnetic resonance imaging (MRI) in many cases, and seizures and mental retardation have been reported in a small portion of cases [66]. A number of different mutations have been observed resulting in a complete or partial loss of laminin α2 protein [37,66,72–75,146–150]. Some patients have only a partial decrease in laminin α2 protein levels, and these patients have better prognosis becoming ambulatory with longer life expectancy although a progressive muscle weakness may persist [72,149].
Muscular Dystrophies and Allied Disorders III: Congenital Muscular Dystrophies and Associated Disorders
2013, Muscle Biopsy: A Practical Approach Expert Consult; Online and PrintLissencephaly type II
2007, Handbook of Clinical NeurologyCitation Excerpt :As with the remaining α‐dystroglycanopathies, FCMD results in marked reduction of glycosylated α‐dystroglycan but not β‐dystroglycan in skeletal and cardiac muscle (Hayashi et al., 2001). Reduced laminin α2 expression is also present (Hayashi et al., 1993). In the FCMD brain, breaches in the glia limitans, a basement membrane covering the cortical neurons, have been observed as early as 18‐week fetal brain and are responsible for vertical overmigration of the neurons into the subarachnoid space, resulting in widespread pachygyria/polymicrogyria (Nakano et al., 1996; Yamamoto et al., 1997).
Late-onset autosomal recessive limb-girdle muscular dystrophy with rimmed vacuoles
2004, Clinical Neurology and Neurosurgery