Widening the spectrum of LAMA 2 congenital muscular dystrophy (MDC1A): cobblestone malformation [PDF]
Arquivos de Neuro-Psiquiatria, 2021 Luiz Fernando Monte Borella +7 more
doaj +5 more sources
Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A) [PDF]
Journal of Neuropathology and Experimental Neurology, 2020 Abstract Congenital muscular dystrophy type 1A (MDC1A) is caused by recessive variants in laminin α2 (LAMA2). Patients have been found to have white matter signal abnormalities on magnetic resonance imaging (MRI) but rarely structural brain abnormalities.
John Day +2 more
exaly +5 more sources
Zebrafish Models of LAMA2-Related Congenital Muscular Dystrophy (MDC1A) [PDF]
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 +3 more sources
Molecular Genetics & Genomic Medicine, 2020 Background Congenital muscular dystrophy type 1A (MDC1A), also termed merosin‐deficient congenital muscular dystrophy (CMD), is a severe form of CMD caused by mutations in the laminin α2 gene (LAMA2). Of the more than 300 likely pathogenic variants found
Edmund S. Cauley +11 more
doaj +2 more sources
Magnetic Resonance Imaging Is Sensitive to Pathological Amelioration in a Model for Laminin-Deficient Congenital Muscular Dystrophy (MDC1A). [PDF]
PLoS ONE, 2015 To elucidate the reliability of MRI as a non-invasive tool for assessing in vivo muscle health and pathological amelioration in response to Losartan (Angiotensin II Type 1 receptor blocker) in DyW mice (mouse model for Laminin-deficient Congenital ...
Ravneet Vohra +4 more
doaj +4 more sources
LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient
Case Reports in Genetics, 2018 Congenital muscle dystrophies (CMD) are genetically and clinically heterogeneous hereditary myopathies mainly with autosomal recessive type of inheritance.
Ivanka Dimova, Ivo Kremensky
doaj +2 more sources
Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report [PDF]
BMC Medical Genomics, 2021 Background Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is a rare autosomal recessive genetic condition caused by deleterious mutations in the LAMA2 gene encoding the laminin-α2 chain.
Youssef El Kadiri +5 more
doaj +2 more sources
A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG study [PDF]
BMC NeurologyBackground SELENON-related myopathy (SELENON-RM) is a rare congenital myopathy characterized by slowly progressive axial muscle weakness, rigidity of the spine, scoliosis, and respiratory insufficiency.
E. C. M. de Laat +11 more
doaj +2 more sources
Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin-deficient congenital muscular dystrophy type 1A. [PDF]
J Clin Lab Anal, 2021 Genetic alterations in an Iranian 35‐month‐old boy with MDC1A and his family were investigated using WES method. Sanger sequencing method was used in order to confirmation of the identified mutations. We identified two pathogenic missense mutations in the compound heterozygous state on the LAMA2 gene as contributing to the MDC1A phenotype.
Khorrami A +10 more
europepmc +2 more sources
A Novel LAMA2 Mutation (c.7412G>A) Was Found in a Chinese Patient With Congenital Muscular Dystrophy. [PDF]
J Cell Mol MedABSTRACT Congenital muscular dystrophy (CMD) is a genetic muscle disorder characterised by muscle weakness and degeneration, either present at birth or emerging in middle age, often leading to progressive disability. MDC1A is a subtype of CMD caused by mutations in the LAMA2 gene.
Zhao M +5 more
europepmc +2 more sources