Novel LAMA2 Gene Mutations Associated with Merosin-Deficient Congenital Muscular Dystrophy
Iranian Biomedical Journal, 2018 Background: Merosin-deficient congenital muscular dystrophy (MDC1A) is a rare autosomal recessive genetic disease occurred due to mutations in the LAMA2 gene.
Farzad Hashemi-Gorji +3 more
semanticscholar +1 more source
A novel point mutation affecting Asn76 of dystrophin protein leads to dystrophinopathy [PDF]
, 2017 K
Ajzner, Éva +8 more
core +1 more source
Diagnosis of Congenital Muscular Dystrophy
Pediatric Neurology Briefs, 1996 Patterns of alkaline and acid phosphatases were compared with the distribution of merosin and dystrophin staining in muscle biopsies from 20 children with congenital muscular dystrophy (CMD) examined at the Department of Neurology, Washington University ...
J Gordon Millichap
doaj +1 more source
Promoting differentiation of cultured myoblasts using biomimetic surfaces that present alpha-laminin-2 peptides. [PDF]
, 2016 Traditionally, muscle cell lines are cultured on glass coverslips and differentiated to investigate myoblast fusion and differentiation. Efficient differentiation of myoblasts produces a dense network of myotubes with the correct organisation for ...
Parker, F +3 more
core +1 more source
Biomedical Reports, 2019 Merosin deficient congenital muscular dystrophy type 1A (MDC1A) is caused by defects in the LAMA2 gene. Patients with MDC1A exhibit severe symptoms, including congenital hypotonia, delayed motor development and contractures.
K. Tran, Vinh S Le, C. D. Vu, L. Nguyen
semanticscholar +1 more source
Muscular dystrophy meets protein biochemistry, the mother of invention [PDF]
, 2017 Muscular dystrophies result from a defect in the linkage between the muscle fiber cytoskeleton and the basement membrane (BM). Congenital muscular dystrophy type MDC1A is caused by mutations in laminin α2 that either reduce its expression or impair its ...
Jeffrey H. Miner +3 more
core +2 more sources
Altered Mechanical Properties of Astrocytes Lacking MLC1: Implications for the Leukodystrophy MLC
Glia, Volume 74, Issue 2, February 2026.Mechanical properties of Mlc1‐null astrocytes are altered. Cytoskeleton‐related pathways are dysregulated in Mlc1‐null astrocytes. Mlc1‐null astrocytes show alterations in focal adhesions, which link the cytoskeleton to the extracellular matrix. ABSTRACT Loss of function of the astrocyte protein MLC1 causes Megalencephalic Leukoencephalopathy with ...
Quinty Bisseling +10 more
wiley +1 more source
Native chick laminin-4 containing the beta 2 chain (s-laminin) promotes motor axon growth. [PDF]
, 1996 After denervation of muscle, motor axons reinnervate original synaptic sites. A recombinant fragment of the synapse specific laminin beta 2 chain (s-laminin) was reported to inhibit motor axon growth.
Brandenberger, R +3 more
core +1 more source
A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan [PDF]
, 2003 Cataloged from PDF version of article.The limb girdle muscular dystrophies are a heterogeneous group of conditions characterized by proximal muscle weakness and disease onset ranging from infancy to adulthood.
Atalay, R. C. +15 more
core +1 more source
Zebrafish Models of LAMA2-Related Congenital Muscular Dystrophy (MDC1A)
Frontiers in Molecular Neuroscience, 2020 LAMA2-related congenital muscular dystrophy (CMD; LAMA2-MD), also referred to as merosin deficient CMD (MDC1A), is a severe neonatal onset muscle disease caused by recessive mutations in the LAMA2 gene.
Lacramioara Fabian +3 more
doaj +1 more source