Results 131 to 140 of about 1,370 (166)

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

Severe classical congenital muscular dystrophy and merosin expression

Clinical Genetics, 1998
Vajsar J, Chitayat D, Becker LE, Ho M, Ben‐Zeev B, Jay V. Severe classical congenital muscular dystrophy and merosin expression. Clin Genet 1998: 54: 193–198. 0 Munksgaard, 1998It has been suggested that patients with autosomal recessive merosin deficient congenital muscular dystrophy (CMD), as opposed to the merosin positive cases form a homogeneous ...
David Chitayat, Laurence E Becker, Venita Jay   +2 more
exaly   +3 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

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

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
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The Pathologic Spectrum of Merosin Deficiency

Journal of Child Neurology, 1998
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THE PATHOLOGICAL SPECTRUM OF MEROSIN DEFICIENCY

Journal of Neuropathology and Experimental Neurology, 1996
Robert E. Mrak, Eric P. Hoffman, Elena Pegaro, Pedro Mancías   +3 more
openaire   +1 more source