Results 131 to 140 of about 1,335 (167)

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

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   +2 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

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
openaire   +2 more sources

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
openaire   +3 more sources

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

Prenatal diagnosis in merosin-deficient congenital muscular dystrophy

Neuromuscular Disorders, 1997
Prenatal diagnosis was carried out in five merosin-deficient congenital muscular dystrophy (CMD) families. We studied both laminin-alpha 2 chain expression in trophoblast using immunocytochemistry and linkage analysis to the LAMA2 locus. In four families there was good agreement between the immunocytochemistry and linkage analysis results: in one case ...
Naom I., Sewry C., D'Alessandro M., Topaloglu H., FERLINI, Alessandra, Wilson L., Dubowitz V., Muntoni F.   +7 more
openaire   +2 more sources

Congenital muscular dystrophy with merosin deficiency.

Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie, 1995
Congenital muscular dystrophy is one of the most frequent and severe childhood muscular dystrophies. Several forms of this disease have been described. The form associated with marked central nervous system disturbances, frequent in Japan, is known as Fukuyama congenital muscular dystrophy and was recently linked to chromosome 9. The most frequent form
F M, Tomé, T, Evangelista, A, Leclerc, Y, Sunada, E, Manole, B, Estournet, A, Barois, K P, Campbell, M, Fardeau   +8 more
openaire   +1 more source

Merosin and Laminin

Annals of the New York Academy of Sciences, 1990
K, Ehrig, I, Leivo, E, Engvall
openaire   +2 more sources

The Pathologic Spectrum of Merosin Deficiency

Journal of Child Neurology, 1998
openaire   +2 more sources