Results 31 to 40 of about 3,092 (251)
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
Angiotensin II type 1 receptor antagonists alleviate muscle pathology in the mouse model for laminin-alpha2-deficient congenital muscular dystrophy (MDC1A) [PDF]
, 2012 BACKGROUND: Laminin-alpha2-deficient congenital muscular dystrophy (MDC1A) is a severe muscle-wasting disease for which no curative treatment is available.
Lin, Shuo +2 more
core +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
Arquivos de Neuro-Psiquiatria, 1997 Uma proporção variável de pacientes com distrofia muscular congênita (DMC) da forma clássica ou ocidental apresenta deficiência da cadeia α2 da merosina, uma proteína da matriz extracelular.
Lineu Cesar Werneck +2 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
European Journal of Neurology, Volume 29, Issue 12, Page 3486-3507, December 2022., 2022 This consensus statement summarizes the most important recommendations concerning anaesthesia in patients with neuromuscular disorders. Abstract Background and purpose Patients with neuromuscular conditions are at increased risk of suffering perioperative complications related to anaesthesia.
Luuk R. van den Bersselaar +21 more
wiley +1 more source
Distrofia muscular congênita. Parte II: revisão da patogênese e perspectivas terapêuticas [PDF]
, 2009 The congenital muscular dystrophies (CMDs) are a group of genetically and clinically heterogeneous hereditary myopathies with preferentially autosomal recessive inheritance, that are characterized by congenital hypotonia, delayed motor development and ...
REED, Umbertina Conti
core +2 more sources
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
Atypical Phenotype in Two Patients with LAMA2 Mutations [PDF]
, 2014 Congenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene, which encodes the a2-chain of laminin. We report two patients with partial laminin-a2 deficiency and atypical phenotypes, one with almost exclusive central nervous system ...
Bronze-da-Rocha, E +10 more
core +1 more source