Psychological impact of motor impairment in tow forms of congenital muscular dystrophy [PDF]
European Psychiatry, 2023 Introduction Congenital muscular dystrophies (CMDs) represent a heterogeneous group of early-onset muscle disorders presenting primarily with hypotonia and delayed motor development.
I. Boujelbene +7 more
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Merosin-deficient congenital muscular dystrophy type 1a: detection of LAMA2 variants in Vietnamese patients [PDF]
Frontiers in Genetics, 2023 Background: Merosin-deficient congenital muscular dystrophy type 1A (MDC1A), also known as laminin-α2 chain-deficient congenital muscular dystrophy (LAMA2-MD), is an autosomal recessive disease caused by biallelic variants in the LAMA2 gene.
Van Khanh Tran +14 more
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Stem Cell Research, 2022 LAMA2-related congenital muscular dystrophy (MDC1A), the most commonly recognized type of congenital muscular dystrophies, is a severe neonatal onset muscle disease caused by recessive mutations in the LAMA2 gene.
Qiang Rui +5 more
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Brain Dysfunction in LAMA2-Related Congenital Muscular Dystrophy: Lessons From Human Case Reports and Mouse Models [PDF]
Frontiers in Molecular Neuroscience, 2020 Laminin α2 gene (LAMA2)-related Congenital Muscular Dystrophy (CMD) was distinguished by a defining central nervous system (CNS) abnormality—aberrant white matter signals by MRI—when first described in the 1990s.
Andrea J. Arreguin +2 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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Molecular Therapy - Methods and Clinical Development, 2021 Gene replacement for laminin-α2-deficient congenital muscular dystrophy 1A (MDC1A) is currently not possible using a single adeno-associated virus (AAV) vector due to the large size of the LAMA2 gene.
Paul T Martin
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Novel compound heterozygous mutations of LAMA2-limb–girdle muscular dystrophy: A case report and literature review [PDF]
Frontiers in Neurology, 2023 The laminin α2 (LAMA2) gene pathogenic variants can lead to limb–girdle muscular dystrophy (known as LGMDR23), which is rarely reported and characterized by proximal weakness in the limbs.
Duo-Zi Wang +8 more
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Skeletal muscle laminin and MDC1A: pathogenesis and treatment strategies
Skeletal Muscle, 2011 Laminin-211 is a cell-adhesion molecule that is strongly expressed in the basement membrane of skeletal muscle. By binding to the cell surface receptors dystroglycan and integrin α7β1, laminin-211 is believed to protect the muscle fiber from damage under
Madeleine Durbeej
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Laminin Polymerization and Inherited Disease: Lessons From Genetics [PDF]
Frontiers in Genetics, 2021 The laminins (LM) are a family of basement membranes glycoproteins with essential structural roles in supporting epithelia, endothelia, nerves and muscle adhesion, and signaling roles in regulating cell migration, proliferation, stem cell maintenance and
Liam Shaw +2 more
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LAMA2 variants associated with muscular dystrophy, brain structural abnormalities, and epilepsy: a genotype-phenotype study [PDF]
Frontiers in NeurologyBackgroundLAMA2-related congenital muscular dystrophy (LAMA2-MD) is a genetically heterogeneous disorder defined by progressive muscle weakness, brain structural abnormalities, epilepsy, and multisystem involvement.
Jian Zha +7 more
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