Results 21 to 30 of about 1,335 (167)
A novel compound heterozygous variant in LAMA2 gene in a family with merosin-deficient congenital muscular dystrophy [PDF]
BMC Medical GenomicsLAMA2 encodes the alpha-2 subunit of a protein called Laminin. It consists of three subunits Y; alpha, beta and gamma. Alpha2 subunit from LAMA2 gene along with beta-2 and gamma-2 forms laminin-2 protein.
Parham Nejati +6 more
doaj +2 more sources
Journal of Anatomy, Volume 243, Issue 1, Page 39-50, July 2023., 2023 Comparison between the stapedius muscle of the middle ear (a) and a facial muscle, the zygomaticus major (b), a jaw muscle, the masseter (c) and a limb muscle, the biceps brachii (d). Note, the small fiber size and the high proportion of fast contracting type 2 fibers (stained red) in the middle ear and facial muscle compared to the jaw and limb muscle.
Anton Rönnblom +4 more
wiley +1 more source
Acta Paediatrica, Volume 112, Issue 4, Page 846-853, April 2023., 2023 Abstract Aim The aim of this study was to conduct a metabolic and nutritional assessment of children with neuromuscular disorders, including the investigation of the liver and bone mineral density. Methods In this observational study, we included 44 children with neuromuscular disorders.
Marie Mostue Naume +7 more
wiley +1 more source
LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness
Frontiers in Molecular Neuroscience, 2020 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.
Anna Sarkozy +5 more
doaj +1 more source
A Novel Frameshift Mutation in Two Siblings with Merosin-deficient Congenital Muscular Dystrophy
Haseki Tıp Bülteni, 2020 We present two siblings with elevated serum creatine kinase concentrations, developmental delay, muscle weakness, and contractures of the lower limbs. Cranial magnetic resonance imaging revealed diffuse white matter hyperintensity in both siblings.
Senem Ayça +3 more
doaj +1 more source
Molecular Genetics &Genomic Medicine, Volume 11, Issue 2, February 2023., 2023 Causative variants linked with LGMD in an Iranian population. Abstract Background Limb‐girdle muscular dystrophy (LGMD) is a non‐syndromic muscular dystrophy caused by variations in the genes involved in muscle structure, function and repair. The heterogeneity in the severity, progression, age of onset, and causative genes makes next‐generation ...
Hamidreza Mianesaz +8 more
wiley +1 more source
Acta Médica Portuguesa, 2003 Congenital muscular dystrophy (CMD) is one of the most frequent dystrophies of childhood, which is commonly characterized by neonatal muscle impairment with or without clinical evidence of central nervous system involvement.
Valentina T Ribeiro +5 more
doaj +1 more source
Human Pathology: Case Reports, 2016 Peripheral neuropathy, white matter abnormalities, and cardiomyopathy are associated findings with merosin-deficient congenital muscular dystrophy.
Erika Hissong, M.D. +3 more
doaj +1 more source
Asian Journal of Medical Sciences, 2017 Background: Duchenne muscular dystrophy (DMD), one of the most common X linked muscular disorder, affecting 1 in 3500 male births and is caused by mutation in dystrophin gene. 65% of DMD cases are caused by large deletion of dystrophin gene, followed by
Rachna Agarwal
doaj +1 more source
Congenital muscular dystrophy with inflammation: Diagnostic considerations
Annals of Indian Academy of Neurology, 2016 Background and Purpose: Muscle biopsy features of congenital muscular dystrophies (CMD) vary from usual dystrophic picture to normal or nonspecific myopathic picture or prominent fibrosis or striking inflammatory infiltrate, which may lead to diagnostic ...
Kaumudi Konkay +4 more
doaj +1 more source