LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of neuromuscular diseases"
DOI: 10.3233/jnd-221555
Abstract: We report three siblings from a non-consanguineous family presenting a with contractural limb-girdle phenotype with intrafamilial variability. Muscle MRI showed posterior thigh and quadriceps involvement with a sandwich-like sign. Whole-exome sequencing identified two compound heterozygous… read more here.
Keywords: lama2 related; diagnosis; importance; brain ... See more keywords
Unique genotype-phenotype correlations within LAMA2-related limb girdle muscular dystrophy in Chinese patients
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2023.1158094
Abstract: Background LAMA2-related limb girdle muscular dystrophy (LGMD R23) is rare. The detailed clinical phenotypes and genetic information associated with LGMD R23 are unknown. Methods We conducted a retrospective cross-sectional and longitudinal study on 19 LGMD… read more here.
Keywords: lama2 related; related limb; limb girdle; muscular dystrophy ... See more keywords
Zebrafish Models of LAMA2-Related Congenital Muscular Dystrophy (MDC1A)
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Molecular Neuroscience"
DOI: 10.3389/fnmol.2020.00122
Abstract: 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. LAMA2 encodes laminin α2, a subunit… read more here.
Keywords: lama2 related; muscular dystrophy; dystrophy; congenital muscular ... See more keywords
LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Molecular Neuroscience"
DOI: 10.3389/fnmol.2020.00123
Abstract: Mutations in the LAMA2 gene affect the production of the α2 subunit of laminin-211 (= merosin) and result in either partial or complete laminin-211 deficiency. Complete merosin deficiency is typically associated with a more severe… read more here.
Keywords: lama2 related; outcome measures; muscle; lama2 rds ... See more keywords