Clinicopathological study on eyes from cases of Fukuyama type congenital muscular dystrophy

Toda, 1994, Refined mapping of a gene responsible for Fukuyama-type congenital muscular dystrophy: evidence for strong linkage disequilibrium, Am J Hum Genet, 55, 946 Saito, 2000, Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy, Am J Med Genet, 92, 184, 10.1002/(SICI)1096-8628(20000529)92:3<184::AID-AJMG5>3.0.CO;2-N Dobyns, 1989, Diagnostic criteria for Walker-Warburg syndrome, Am J Med Genet, 32, 195, 10.1002/ajmg.1320320213 Santavuori, 1989, Muscle-eye-brain disease (MEB), Brain Dev, 11, 147, 10.1016/S0387-7604(89)80088-9 Cormand, 1999, Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping, Am J Hum Genet, 64, 126, 10.1086/302206 Yoshioka, 1990, Ocular manifestations in Fukuyama type congenital muscular dystrophy, Brain Dev, 12, 423, 10.1016/S0387-7604(12)80076-3 Yoshioka, 1994, Clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy, Am J Med Genet, 53, 245, 10.1002/ajmg.1320530309 Haltia, 1997, Muscle-eye-brain disease: a neuropathological study, Ann Neurol, 41, 173, 10.1002/ana.410410208 Kimura, 1993, Fukuyama-type congenital muscular dystrophy and the Walker-Warburg syndrome, Brain Dev, 15, 182, 10.1016/0387-7604(93)90063-E Takada, 1987, Cortical dysplasia in a 23-week fetus with Fukuyama congenital muscular dystrophy (FCMD), Acta Neuropathol (Berl), 74, 300, 10.1007/BF00688196 Nakano, 1996, Are breaches in the glia limitans the primary cause of the micropolygyria in Fukuyama-type congenital muscular dystrophy (FCMD)? Pathological study of the cerebral cortex of a FCMD fetus, Acta Neuropathol (Berlin), 91, 313, 10.1007/s004010050431 Yamamoto, 1996, Fukuyama congenital muscular dystrophy: cortical dysplasia of the cerebrum in a 20-week fetus, Neuropathology, 16, 184, 10.1111/j.1440-1789.1996.tb00180.x Yamamoto, 1997, Pial-glial barrier abnormalities in fetuses with Fukuyama congenital muscular dystrophy, Brain Dev, 19, 35, 10.1016/S0387-7604(96)00056-3 Ishii, 1997, Electron microscopic examination of basal lamina in Fukuyama congenital muscular dystrophy, Neuromuscular Disord, 7, 191, 10.1016/S0960-8966(97)00462-8 Suzuki, 1996 Fukuyama, 1981, Congenital progressive muscular dystrophy of the Fukuyama type-clinical, genetic and pathological considerations, Brain Dev, 3, 1, 10.1016/S0387-7604(81)80002-2 Chomczynski, 1987, Single-step method of RNA isolation by acid guanidium thiocyanate-phenol-chloroform extraction, Anal Biochem, 162, 156, 10.1016/0003-2697(87)90021-2 Osawa, 1997, Fukuyama type congenital progressive muscular dystrophy, 31 Matsubara, 1999, Fukuyama-type congenital muscular dystrophy: close relation between changes in the muscle basal lamina and plasma membrane, Neuromuscular Disord, 9, 388, 10.1016/S0960-8966(99)00049-8 Yamamoto, 1997, Localization of laminin subunits in the central nervous system in Fukuyama congenital muscular dystrophy: an immunohistochemical investigation, Acta Neuropathol (Berl), 94, 173, 10.1007/s004010050690 ter Laak, 1998, Laminin-α2 (merosin), β-dystroglycan, α-sarcoglycan (adhalin), and dystrophin expression in congenital muscular dystrophies: An immunohistochemical study, Clin Neurol Neurosurg, 100, 5, 10.1016/S0303-8467(97)00109-1 Taratuto, 1999, Merosin-deficient congenital muscular dystrophy associated with abnormal cerebral cortical gyration: an autopsy study, Neuromuscular Disord, 9, 86, 10.1016/S0960-8966(98)00112-6 Aumailley, 1998, The role of laminins in basement membrane function, J Anat, 193, 1, 10.1046/j.1469-7580.1998.19310001.x Miyagoe-Suzuki, 2000, Merosin and congenital muscular dystrophy, Microsc Res Tech, 48, 181, 10.1002/(SICI)1097-0029(20000201/15)48:3/4<181::AID-JEMT6>3.0.CO;2-Q de Curtis, 1991, Laminin receptors in the retina: sequence analysis of the chick integrin α6 subunit. Evidence for transcriptional and posttranslational regulation, J Cell Biol, 113, 405, 10.1083/jcb.113.2.405 Georges-Labouesse, 1998, Essential role of α6 integrins in cortical and retinal lamination, Curr Biol, 8, 983, 10.1016/S0960-9822(98)70402-6 Hynes, 1992, Integrins: versatility, modulation, and signaling in cell adhesion, Cell, 69, 11, 10.1016/0092-8674(92)90115-S Molnar, 1984, Distribution of S-100 protein and glial fibrillary acidic protein in normal and gliotic human retina, Exp Eye Res, 38, 27, 10.1016/0014-4835(84)90135-0 Chevez, 1993, Practical applications of some antibodies labelling the human retina, Histol Histopathol, 8, 437 Ben Ezra, 1987, S-100 antigenic determinants in human retina, Graefe's Arch Clin Exp Ophthalmol, 225, 151, 10.1007/BF02160349 Erickson, 1987, Glial fibrillary acidic protein increase in Müller cells after retinal detachment, Exp Eye Res, 44, 37, 10.1016/S0014-4835(87)80023-4 Bek, 1997, Glial cell involvement in vascular occlusion of diabetic retinopathy, Acta Ophthalmol Scand, 75, 239, 10.1111/j.1600-0420.1997.tb00764.x Robinson, 1990, Müller cells in adult rabbit retinae: morphology, distribution and implications for function and development, J Comp Neurol, 292, 178, 10.1002/cne.902920203 Newman, 1996, The Müller cell: a functional element of the retina, Trends Neurosci, 19, 307, 10.1016/0166-2236(96)10040-0 Vandenbranden, 2000, Immunocytochemical localization of the glutamate transporter GLT-1 in goldfish (Carassius aurantus) retina, Comp Neurol, 423, 440, 10.1002/1096-9861(20000731)423:3<440::AID-CNE7>3.0.CO;2-7 Kasahara, 1986, Immunohistochemical localization of ornithine aminotransferase in normal rat tissues by Fab’-horseradish peroxidase conjugates, J Histochem Cytochem, 34, 1385, 10.1177/34.11.3534076 Linser, 1981, Induction of glutamine synthetase in embryonic neural retina: its suppression by the gliatoxic agent alpha-aminoadipic acid, Brain Res, 227, 103, 10.1016/0165-3806(81)90097-3 Daune, 1988, Interrelationships between ornithine, glutamate, and GABA. II. Consequences of inhibition of GABA- T and ornithine aminotransferase in brain, Neurochem Res, 13, 69, 10.1007/BF00971857 Kondo-Iida, 1999, Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD), Hum Mol Genet, 8, 2303, 10.1093/hmg/8.12.2303 Toda, 1999, Fukuyama-type congenital muscular dystrophy: the first human disease to be caused by ancient retrotransposal integration, J Mol Med, 77, 816, 10.1007/s001099900065 Heggie, 1987, Cerebro-ocular dysplasia-muscular dystrophy syndrome: report of two cases, Arch Ophthalmol, 105, 520, 10.1001/archopht.1987.01060040090040 Dobyns, 1993, Classification of the cerebro-oculo-muscular syndrome(s). Commentary to Kimura's paper (pp 182-191), Brain Dev, 15, 242, 10.1016/0387-7604(93)90074-I Takada, 1993, Fukuyama-type congenital muscular dystrophy and Walker–Warburg syndrome. Commentary to Kimura's paper (pp 182-191), Brain Dev, 15, 244, 10.1016/0387-7604(93)90075-J Toda, 1995, Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker–Warburg syndrome, Ann Neurol, 37, 99, 10.1002/ana.410370118 Chijiiwa, 1983, Ocular manifestations of congenital muscular dystrophy (Fukyama type), Ann Ophthalmol, 15, 921 Osawa, 1991, Fukuyama type congenital progressive muscular dystrophy, Acta Paediatr Jpn (Tokyo), 33, 261, 10.1111/j.1442-200X.1991.tb01552.x Mishima, 1985, A Fukuyama type congenital muscular dystrophy associated with atypical gyrate atrophy of the choroid and retina: a case report, Acta Ophthalmol, 63, 155, 10.1111/j.1755-3768.1985.tb01528.x