Results 211 to 220 of about 3,092 (251)

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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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/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 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
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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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Prenatal Diagnosis of Merosin-Deficient Muscular Dystrophy

Fetal and Pediatric Pathology, 2018
We evaluated the potential for prenatal diagnosis of merosin-negative muscular dystrophies by immunohistochemistry.This is a retrospective study of 12 pregnancies with merosin-negative muscular dystrophy in a prior child. Chorionic villus sampling (CVS) was performed between 11th to 13th gestational weeks.
Erdem Fadiloglu, Gonca Ozten, Canan Unal, Beril Talim, Haluk Topaloglu, Mehmet Sinan Beksac   +5 more
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Myelin abnormalities in merosin‐deficient congenital muscular dystrophy

Muscle & Nerve, 2023
AbstractIntroduction/AimsMerosin is a protein complex located in the basement membrane of skeletal muscles and laminin α2‐containing regions of the central and peripheral nervous systems. However, because of the prominence of muscle‐related symptoms, peripheral neuropathy associated with merosin‐deficient congenital muscular dystrophy type 1A (MDC1A ...
Yoshihiko Saito, Akihiko Ishiyama, Yuko Saito, Hirofumi Komaki, Masayuki Sasaki   +4 more
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Localization of merosin in the normal human brain: implications for congenital muscular dystrophy with merosin deficiency.

Journal of submicroscopic cytology and pathology, 1996
A particular form of congenital muscular dystrophy with merosin deficiency has recently been described. Magnetic resonance imaging has shown that affected children show brain abnormalities. We investigate the localization of merosin in the normal human brain by immunohistochemistry.
Villanova, M., Malandrini, A., Toti, P., Salvestroni, R., Six, J., Martin, J. J., Guazzi, G. C.   +6 more
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Merosin-deficient congenital muscular dystrophy and cortical dysplasia

European Journal of Paediatric Neurology, 1998
Congenital muscular dystrophy (CMD) encompasses a heterogenous group of muscle disorders with autosomal recessive inheritance, characterized by muscular weakness and hypotonia at birth or within the first few months of life and developmental delay.
F M, Brett, D, Costigan, M A, Farrell, P, Heaphy, J, Thornton, M D, King   +5 more
openaire   +2 more sources