Results 31 to 40 of about 1,370 (166)
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
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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
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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
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Arquivos de Neuro-Psiquiatria, 2007 Congenital muscle dystrophy (CMD) is a heterogeneous group of autosomal recessive myopathies. It is known that CMD may affect the central nervous system (CNS).
André Palma da Cunha Matta +1 more
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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
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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
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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
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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
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O'zbekiston me'morchilik merosining shakllanishi
, 2022 Maqolada, O‘zbekiston me’morchiligi merosida minora va minorasimon inshootlarni qadimdan shakllangan namunalari, xududimizning turli shahar va maskanlari me’moriy tizimida alohida o‘rin tutgan. Sharq me’morchiligida minoralarni turli me’moriy yechimi va funksional sifatiga ega bo‘lgan ko‘plab namunalari bunyod etilgani haqida xikoya qilinadi.
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Arquivos de Neuro-Psiquiatria, 2005 A distrofia muscular congênita (DMC) compõe um grupo de miopatias caracterizadas por hipotonia e fraqueza muscular notadas já no primeiro ano de vida.
Regina Toni Loureiro de Freitas +3 more
doaj +1 more source