Selected paper from the 1st International Congress of the World Muscle SocietyVariable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin α2 chain
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Cited by (87)
Laminins
2023, Biochemistry of Collagens, Laminins and Elastin: Structure, Function and Biomarkers, Third EditionHistorical aspects of muscle research in the Dubowitz Neuromuscular Centre: the Hammersmith days
2021, Neuromuscular DisordersLaminins
2019, Biochemistry of Collagens, Laminins and Elastin: Structure, Function and BiomarkersExtracellular matrix-driven congenital muscular dystrophies
2018, Matrix BiologyCitation Excerpt :Mutations causing LAMA2-RDs are in the gene coding for the α2 chain, LAMA2, thus affecting laminin-211 (formerly merosin) but also laminin-221 (formerly s-merosin). Complete deficiency of laminin-211 due to biallelic loss of function mutations in LAMA2 is associated with a severe congenital muscular dystrophy phenotype whereas partial laminin-211 deficiency (e.g. due to missense or in frame exon skipping mutations in LAMA2) may present with a milder phenotype in late childhood or adulthood [9–12]. Clinical onset of primary laminin-211 deficiency is prenatal so that it almost always is apparent at birth or is recognized in the first few months of infancy, manifesting with hypotonia, muscle weakness, and feeding difficulties.
Limb girdle muscular dystrophy due to LAMA2 mutations: Diagnostic difficulties due to associated peripheral neuropathy
2014, Neuromuscular DisordersCitation Excerpt :In patients in whom neurophysiological studies have been undertaken, a mild demyelinating motor neuropathy has been documented [4–8]. Partial merosin deficiency caused by LAMA2 mutations and manifesting as limb girdle muscular dystrophy was reported earlier by our group [9] and is now more widely recognised, but is much less common than typical MDC1A. This milder motor phenotype is characterised by a later age of onset, ranging from late childhood to adulthood and is also associated with central and peripheral nervous system involvement [6,10–14].
Diagnostic approach to the congenital muscular dystrophies
2014, Neuromuscular DisordersCitation Excerpt :In patients with complete deficiency the degree of muscle weakness usually precludes independent ambulation, although patients may get to a standing position and rarely achieve independent ambulation (2/33 patients in one series) [20]. Partial laminin α2 deficiency due to mutations in LAMA2 tends to present with milder and more variable phenotypes, including LGMD-like proximal weakness, and an Emery–Dreifuss like contracture phenotype, although manifestations may also be as severe as in the complete deficient patient [10,20–23]. In LAMA2-RD, particularly in the first 2 years of life, the CK is typically elevated more than five times normal.