Results 31 to 40 of about 1,335 (167)
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
Arquivos de Neuro-Psiquiatria, 2005 A distrofia muscular congênita (DMC) compõe um grupo de miopatias caracterizadas por hipotonia e fraqueza muscular notadas até o primeiro ano de vida. Em torno de 40% a 50% dos casos são decorrentes de deficiência primária da proteína merosina (DM), os ...
Fernanda M. Rocco +6 more
doaj +1 more source
Педиатрическая фармакология, 2014 Congenital muscular dystrophies (CMDs) are an extremely heterogenous group of neuromuscular diseases. The article presents the general information on clinical and pathogenetic aspects of CMD diagnosis with emphasis on one of the most common forms of ...
O. A. Klochkova +2 more
doaj +1 more source
Arquivos de Neuro-Psiquiatria, 2005 The congenital muscular dystrophies (CMD) are heterogeneous muscular diseases with early and dystrophic pattern on muscle biopsy. Many different subtypes have been genetically identified and most phenotypes not yet identified belong to the merosin ...
Lucio Gobbo Ferreira +6 more
doaj +1 more source
A novel early onset phenotype in a zebrafish model of merosin deficient congenital muscular dystrophy. [PDF]
PLoS ONE, 2017 Merosin deficient congenital muscular dystrophy (MDC1A) is a severe neuromuscular disorder with onset in infancy that is associated with severe morbidities (particularly wheelchair dependence) and early mortality.
Sarah J Smith +3 more
doaj +1 more source
LAMA2 Neuropathies: Human Findings and Pathomechanisms From Mouse Models
Frontiers in Molecular Neuroscience, 2020 Merosin deficient Congenital Muscular Dystrophy (MDC1A), or LAMA2-related muscular dystrophy (LAMA2-RD), is a recessive disorder resulting from mutations in the LAMA2 gene, encoding for the alpha-2 chain of laminin-211.
Stefano Carlo Previtali +2 more
doaj +1 more source
Diagnosis of Congenital Muscular Dystrophy
Pediatric Neurology Briefs, 1996 Patterns of alkaline and acid phosphatases were compared with the distribution of merosin and dystrophin staining in muscle biopsies from 20 children with congenital muscular dystrophy (CMD) examined at the Department of Neurology, Washington University ...
J Gordon Millichap
doaj +1 more source
Natural disease history of the dy2J mouse model of laminin α2 (merosin)-deficient congenital muscular dystrophy. [PDF]
PLoS ONE, 2018 Merosin deficient congenital muscular dystrophy 1A (MDC1A) is a very rare autosomal recessive disorder caused by mutations in the LAMA2 gene leading to severe and progressive muscle weakness and atrophy.
S Pasteuning-Vuhman +8 more
doaj +1 more source
Muscle &Nerve, Volume 74, Issue 1, Page 121-130, July 2026.ABSTRACT Introduction/Aims Data on respiratory, feeding, ambulatory outcomes and prognostic factors for congenital myopathies (CM) and congenital muscular dystrophies (CMD) remain limited. Therefore, in this study, we report the characteristics of a large single‐center cohort of patients with CM and CMD, focusing on long‐term outcomes and aiming to ...
Can Ozlu +4 more
wiley +1 more source