Results 21 to 30 of about 3,572 (228)
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
UDP-glucose dehydrogenase variants cause dystroglycanopathy. [PDF]
Ann Clin Transl NeurolAbstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Reelfs AM +8 more
europepmc +2 more sources
Congenital muscular dystrophy type 1A with residual merosin expression [PDF]
Korean Journal of Pediatrics, 2014 Congenital muscular dystrophy type 1A (MDC1A) is an autosomal recessive disorder characterized by hypotonia, elevated serum creatine kinase level, delayed motor milestones, white matter changes observed by brain magnetic resonance imaging, and normal ...
Hyo Jeong Kim +6 more
doaj +1 more source
bioRxiv, 2023 Merosin-deficient congenital muscular dystrophy (MDC1A) is an autosomal recessive disorder caused by mutations in the LAMA2 gene, resulting in a defective form of the extracellular matrix protein laminin-α2 (LAMA2).
Annie I. Arockiaraj +6 more
semanticscholar +1 more source
Rigid spine syndrome: case report [PDF]
Arquivos de Neuro-Psiquiatria, 1998 We describe a patient who had difficulty in walking since toddling stage and presented proximal upper and lower member weakness which have evolved to a progressive limitation of neck and trunk flexure, compatible with rigid spine syndrome.
VIVIANE H. FLUMIGNAN ZÉTOLA +5 more
doaj +1 more source
Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy.
Human Molecular Genetics, 2021 Congenital muscular dystrophy type 1A (MDC1A), the most common congenital muscular dystrophy in Western countries, is caused by recessive mutations in LAMA2, the gene encoding laminin alpha 2.
Sarah J. Smith +6 more
semanticscholar +1 more source
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
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