Results 121 to 130 of about 1,370 (166)

Merosin and congenital muscular dystrophy

Microscopy Research and Technique, 2000
Merosin (also called as Laminin-2) is an isoform of laminin comprised of the alpha2, beta1 and gamma1 chains. In European populations, half of the patients with classical congenital muscular dystrophy have mutations of the LAMA2 gene (6q22-23) and present reduced or absence of laminin alpha2 chain.
Y, Miyagoe-Suzuki, M, Nakagawa, S, Takeda   +2 more
openaire   +2 more sources

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
openaire   +2 more sources

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
openaire   +2 more sources

Prenatal Detection of Merosin Expression in Human Placenta

Neuropediatrics, 1994
F M Tome, T Voit, M Fardeau
exaly   +3 more sources

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
openaire   +2 more sources

Dystroglycan is a binding protein of laminin and merosin in peripheral nerve

FEBS Letters, 1994
α‐Dystroglycan, a 156 kDa dystrophin‐associated glycoprotein, binds laminin in skeletal muscle. Here we demonstrate that α‐dystroglycan is a binding protein of laminin (A/B1/B2) and merosin (M/B1/B2) in peripheral nerve. Immunocytochemical analysis demonstrates the localization of α‐dystroglycan and merosin surrounding myelin sheath of peripheral nerve
Kevin Campbell, Kiichiro Matsumura, Teruo Shimizu   +2 more
exaly   +3 more sources

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
openaire   +2 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

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
openaire   +3 more sources

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
openaire   +2 more sources