Results 21 to 30 of about 1,370 (166)
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
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
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 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
Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan. [PDF]
PLoS ONE, 2017 PURPOSE:Congenital muscular dystrophy (CMD) is a heterogeneous disease entity. The detailed clinical manifestation and causative gene for each subgroup of CMD are quite variable.
Wen-Chen Liang +8 more
doaj +1 more source
Hybridoma, 1996 Two monoclonal antibodies (MAbs) to human placenta laminin (pl-LAM), 1D8 (IgG1) and 6G5 (IgG2b) were generated and shown by ELISA and immunoblot analysis to recognize only native pl-LAM, but not denatured, reduced pl-LAM or mouse EHS laminin. Intact pl-LAM was easily isolated and purified in large scale from human placenta by 1D8-conjugated affinity ...
T, Mizuta +7 more
openaire +3 more sources