Results 181 to 190 of about 3,572 (228)

Clinical and Histopathological Study of Merosin-deficient and Merosin-positive Congenital Muscular Dystrophy

Pediatric and Developmental Pathology, 2000
The clinical features of merosin-positive congenital muscular dystrophy (CMD) and merosin-deficient CMD are well known, with those of merosin-deficient CMD being more severe. Whether the severity of histopathological findings correlates with these clinical features remains unanswered.
B, Talim, G, Kale, H, Topaloglu, Z, Akçören, M, Caglar, S, Gögüş, M, Elkay   +6 more
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Visual Function in Children With Merosin-Deficient and Merosin-Positive Congenital Muscular Dystrophy

Pediatric Neurology, 1998
This study evaluates whether abnormalities of visual function are present in children with congenital muscular dystrophy and whether these, if present, are associated with merosin status or magnetic resonance imaging (MRI) findings. Twenty children (age range 5-17 years) with a diagnosis of classical congenital muscular dystrophy were assessed on ...
E, Mercuri, S, Anker, J, Philpot, C, Sewry, V, Dubowitz, F, Muntoni   +5 more
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Merosin/laminin-2 and muscular dystrophy

Neuromuscular Disorders, 1996
The laminins are a family of structural basement membrane components with major influences on cells. They are high molecular weight glycoproteins composed of three different but homologous chains, alpha, beta and gamma. At present 10 different chains have been identified.
Wewer, U M, Engvall, E
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Congenital Muscular Dystrophy Associated With Merosin Deficiency

Journal of Child Neurology, 1996
"Classic" congenital muscular dystrophy is a heterogeneous group of disorders, characterized by early-onset muscle weakness and hypotonia, absence of overt cerebral or ocular symptoms, and muscle pathology consistent with a dystrophic process. A subset of patients with congenital muscular dystrophy have recently been found to be deficient in the ...
K N, North, L A, Specht, R K, Sethi, F, Shapiro, A H, Beggs   +4 more
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Merosin-deficient muscular dystrophy: pathogenesis, clinical manifestations and therapeutic strategies

, 2020
Merosin-deficient muscular dystrophy is the most common form of congenital muscular dystrophies (СMD), characterized by genetic heterogeneity and a severe course in most cases.
A. Monakhova, D. Vlodavets, N. Zavadenko, E. Belousova, D. Kazakov, T. Baranich, V. Sukhorukov, A. Kupriyanova   +7 more
semanticscholar   +1 more source

Features of the genetic diagnosis of merosin-deficient muscular dystrophy (a clinical case)

L O Badalyan Neurological Journal
Merosin-deficient muscular dystrophy is a rare neuromuscular disease characterized by diffuse muscular and epileptic seizures. The disease is inherited in an autosomal recessive type and occurs as a result of biallelic variants in the LAMA2 gene. In this
A. Monakhova, D. Vlodavets, Dmitry V. Kanivets   +2 more
semanticscholar   +1 more source

Characterization of Monoclonal Antibodies Recognizing Human Merosin and Their Use in Affinity Purification of Native Merosin

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, H, Shimada, K, Arai, H, Hori, S, Hattori, K, Yamamoto, T, Sakai, Y, Nagai   +7 more
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Merosin-deficient congenital muscular dystrophy in Korea

Brain and Development, 2009
Congenital muscular dystrophy (CMD) is a clinically and genetically heterogeneous group of muscle disorders, presenting at birth or early infancy with hypotonia, muscle weakness, joint contractures, and dystrophic changes in the muscles. Merosin-deficient CMD (MDCMD) is rare in Asian populations, but more common in Caucasians, comprising about 50% of ...
Jong-Hee, Chae, Jin Sook, Lee, Hee, Hwang, Ki Joong, Kim, Yong Seung, Hwang, June Dong, Park, Jung-Eun, Cheon, In-One, Kim, Ghee Young, Choe, Sung Hye, Park   +9 more
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Nonmuscular involvement in merosin-negative congenital muscular dystrophy

Pediatric Neurology, 2002
The spectrum of nonmuscular involvement in six children with merosin-negative congenital muscular dystrophy is described. In all children, biochemical, neuroradiologic, cardiac, and neurophysiologic studies were performed. Cerebral structures that were myelinated at gestation, including internal capsule, corpus callosum, brainstem, and cerebellar white
Gilhuis, H.J., Donkelaar, H.J. ten, Tanke, R.B., Vingerhoets, D.M., Zwarts, M.J., Verrips, A., Gabreëls, F.J.M.   +6 more
openaire   +3 more sources

Congenital muscular dystrophy with partial deficiency of merosin

Journal of the Neurological Sciences, 1997
We present a Japanese patient who has congenital muscular dystrophy, with partial merosin deficiency. The patient had characteristic findings of clinical features and brain MRI. Muscle biopsy showed advanced muscular dystrophy, with greatly reduced muscle fibers and massive infiltration of interstitial connective and fatty tissues.
N, Tachi, S, Kamimura, K, Ohya, S, Chiba, K, Sasaki   +4 more
openaire   +2 more sources