Congenital progressive muscular dystrophy of the fukuyama type — clinical, genetic and pathological considerations —
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Brooke, 1977
Dubowitz, 1978
Lazaro, 1979, Congenital muscular dystrophy: case reports and reappraisal, Muscle Nerve, 2, 349, 10.1002/mus.880020505
Fukuyama, 1960, A peculiar form of congenital progressive muscular dystrophy. Report of fifteen cases, Paediatria Universitatis Tokyo, 4, 5
Fukuyama, 1976, National survey of congenital muscular dystrophy, 125
Lenard, 1980, Congenital muscular dystrophies and unstructured congenital myopathies, Brain Dev, 2, 119, 10.1016/S0387-7604(80)80032-5
Dubowitz, 1980
Nonaka, 1979, Congenital muscular dystrophy, Vol 41, 27
Fowler, 1973, Congenital muscular dystrophy with malformation of central nervous system, 192
Krijgsman, 1980, Congenital muscular dystrophy and cerebral dysgenesis in a Dutch family, Neuropaediatrie, 11, 108, 10.1055/s-2008-1071382
Peters ACB. Personal communication.
Shen Y-Z. Personal communication.
Fukuyama, 1961, Myopathies in infants and children, Clin Neurol (Tokyo), 1, 409
Osawa, 1978, A genetical and epidemiological study on congenital progressive muscular dystrophy (Fukuyama type), J Tokyo Women's Med Coll (Tokyo), 48, 112
Segawa, 1970, Clinical studies on congenital muscular dystrophy. Arthrogrypotic type congenital muscular dystrophy with mental retardation and facial muscle involvement, Brain Dev (Domestic Ed) (Tokyo), 2, 439
Sato, 1980, Three cases of congenital muscular dystrophy (Fukuyama type) including one case which was detected in the neonatal period (abst), Brain Dev, 2, 293
Ueda, 1975, Rehabilitation of the children with congenital muscular dystrophy (Fukuyama type), Sogo Rehab (Tokyo), 3, 51
Ueda, 1975, Rehabilitation of the children with neuromuscular disorders, Brain Dev (Domestic Ed) (Tokyo), 7, 469
Fukuyama, 1980, Natural history of congenital progressive muscular dystrophy
Osawa, 1978, Computerized tomography in patients with progressive muscular dystrophy (abst), Brain Dev (Old Series), 3, 273
Osawa, 1980, Congenital muscular dystrophy, Adv Neurol Sci (Tokyo), 24, 702
Kikuchi, 1974, On the course of two patients with socalled atypical congenital muscular dystrophy in which walking ability was lost, Jpn J Phys TherOccup Ther (Tokyo), 8, 749
Kikuchi, 1978, Physical exercise training for congenital muscular dystrophy, Jpn J Phys Ther Occup Ther (Tokyo), 12, 383
Segawa, 1976, Congenital muscular dystrophy, Adv Neurol Sci (Tokyo), 20, 68
Sato, 1973, Eight cases of congenital muscular dystrophy, J Pediatr Pract (Tokyo), 36, 592
Ueda, 1968, Hypotonic infant, Jpn J Gin Med (Osaka), 26, 3231
Kuwajima, 1974, A hydrocephalic girl with progressive muscular dystrophy: a case report, Brain Dev (Domestic Ed) (Tokyo), 6, 29
Fukuyama, 1976, On the classification of progressive muscular dystrophy with onset in early infancy, 126
Matsumoto, 1970, Progressive muscular dystrophy in infancy, Acta Paediatr Jpn, 12, 4, 10.1111/j.1442-200X.1970.tb02360.x
Nonaka, 1972, Benign congenital muscular dystrophy: a case report, Brain Dev (Domestic Ed) (Tokyo), 4, 316
Hirayama, 1977, Congenital myopathies, JTherap (Tokyo), 59, 1495
Segawa, 1975, Congenital muscular dystrophy, Neurol Med (Tokyo), 3, 199
Suzuki, 1970, Rehabilitation of congenital muscular dystrophy (the second report). On the articulation and language (abst), Jpn J Rehabil Med (Tokyo), 7, 54
Murakami, 1979, Speech disturbances in the Fukuyama type muscular dystrophy, 219
Kasubuchi, 1974, An autopsy case of congenital muscular dystrophy accompanying hydrocephalus, Brain Dev (Domestic Ed) (Tokyo), 6, 36
Shibuya, 1977, A female case of congenital muscular dystrophy associated with infantile spasms, Jpn J Pediatr, 30, 1701
Aoyama, 1977, On the ictal electroencephalogram of symptomatic infantile spasms that occurred in a case of congenital muscular dystrophy (Fukuyama type), J Tokyo Women's Med Coll (Tokyo), 47, 63843
Nishitani, 1973, Congenital myopathy and neurogenic changes, Brain Dev (Domestic Ed) (Tokyo), 5, 477
Iinuma, 1974, Central nervous system involvement of congenital muscular dystrophy, Brain Dev (Domestic Ed) (Tokyo), 6, 340
Hirayama, 1977, Electro-encephalographic study on progressive muscular dystrophy, Clin electroencephalogr (Osaka), 19, 714
Segawa, 1979, Fukuyama type congenital muscular dystrophy as a natural model of childhood epilepsy, Brain Dev, 1, 113, 10.1016/S0387-7604(79)80019-4
Kobayashi, 1976, Visual evoked potentials in congenital muscular dystrophy (Fukuyama type), 230
Fukuyama, 1977, A neuroradiological approach to the CNS disorders in congenital muscular dystrophy, 116
Osawa, 1980, Congenital progressive muscular dystrophy, The Saishin-Igaku (Osaka), 35, 988
Osawa, 1980, Computerized tomography (CT) in patients with progressive muscular dystrophy (PMD) (abst), Dev Med Child Neurol, 22, 262
Tsuchiya, 1980, Changes in the white-gray matter density difference in computerized tomography associated with maturation, Progress in Computerized Tomography (Tokyo), 2, 581
Tamari, 1978, On CT findings in congenital muscular dystrophy, Jpn J Pediatr Med (Tokyo), 10, 1038
Fumita, 1978, Brain computed tomography of congenital muscular dystrophy (Fukuyama type) with discussion of possible pathogenesis of mycoplasma infection, Neurol Med (Tokyo), 9, 49
Mukoyama, 1978, Fukuyama type congenital muscular dystrophy-autopsied brain and computed tomography-, 102
Mukoyama, 1979, The brain pathology in Fukuyama type congenital muscular dystrophy. CT and autopsy findings, Jpn J Med, 18, 218, 10.2169/internalmedicine1962.18.218
Yoshioka, 1979, CT in congenital muscular dystrophy, Jpn J Pediatr Med (Tokyo), 11, 829
Nishitani, 1979, Central nervous system involvement in congenital muscular dystrophy, 232
Yoshioka, 1980, Computed tomography in congenital muscular dystrophy (Fukuyama type), Progress in Computerized Tomography (Tokyo), 2, 341
Yoshioka, 1980, Central nervous system involvement in progressive muscular dystrophy, Arch Dis Child, 55, 589, 10.1136/adc.55.8.589
Yoshioka, 1981, Congenital muscular dystrophy (Fukuyama type), Repeated CT studies in 19 children. Computerized Tomography, 5
Hayashi, 1980, Clinical studies on congenital muscular dystrophy
Okamoto, 1980, Cranial CT study in congenital muscular dystrophy
Koshimizu, 1979, A pathophysiological study on congenital muscular dystrophy. II. On the correlation between mental function, EEG, and CT findings, 230
Fukuyama, 1980, Cranial CT findings in progressive muscular dystrophy
Mori, 1980, Fukuyama type congenital muscular dystrophy with unusual features — evidence for the hypothesis of an intrauterine infectious disease?—, Brain Dev (Domestic Ed) (Tokyo), 12, 544
Kinoshita, 1980, A case of congenital polymyositis—a possible pathogenesis of “Fukuyama type congenital muscular dystrophy.”, Clin Neurol (Tokyo), 11, 911
Kinoshita M, Iwasaki Y, Wada F, Seki T. Infantile polymyositis with mental retardation and peculiar muscle pathology. Brain Dev (Domestic Ed) (Tokyo) (in press).
Bernier, 1979, Myoencephalopathy: cerebral hypomyelination revealed by CT scan of the head in a muscle disease (abst), Ann Neurol, 6, 165
Nogen, 1980, Congenital muscle disease and abnormal findings on computerized tomography, Dev Med Child Neurol, 22, 658, 10.1111/j.1469-8749.1980.tb04381.x
Allen, 1980, Progressive neonatal leuko-encephalomyopathy due to absent methylene-tetrahydrofolate reductase, responsive to treatment (abst), Ann Neurol, 8, 211
Fukuyama, 1979, Developmental changes in normal cranial measurements by computed tomography, Dev Med Child Neurol, 21, 425, 10.1111/j.1469-8749.1979.tb01645.x
Miyake, 1977, An autopsy case of congenital muscular dystrophy associated with hydrocephalus and occipital dermal sinus, Brain Dev (Domestic Ed) (Tokyo), 9, 212
Misugi, 1978, Tubular structure in a case of congenital muscular dystrophy, Brain Dev (Domestic Ed) (Tokyo), 10, 335
Iwase, 1971, A case of congenital progressive muscular dystrophy, Pediatrics (Tokyo), 12, 363
Honda, 1978, Eye findings in muscular dystrophy, Jpn Rev Clin Ophthalmol (Tokyo), 72, 1483
Honda, 1978, Ophthalmological findings of muscular dystrophies: a survey of 53 cases, J Pediatr Ophthalmol Strab, 15, 236, 10.3928/0191-3913-19780701-12
Takada, 1979, An autopsy case of congenital muscular dystrophy, The 1978 annual report from the research group on clinicopathology and epidemiology of progressive muscular dystrophy, sponsored by the Ministry of Health and Welfare of Japan, 235
Santavuori, 1977, Muscle, eye and brain disease: a new syndrome (abst), Neuro-paediatrie (Suppl), 8, 553
Ando, 1978, Myoglobinemia in children with progressive muscular dystrophy, Clin Chim Acta, 85, 17, 10.1016/0009-8981(78)90095-5
Ando, 1980, Myoglobinemia in Duchenne muscular dystrophy carriers, Brain Dev, 2, 87, 10.1016/S0387-7604(80)80012-X
Ando, 1980, Usefulness of quantitative analysis of serum and urinary myoglobin in patients with neuromuscular diseases (abst), Brain Dev, 2, 292
Ando, 1980, Clinical studies on acute myoglobinuria in childhood
Kamoshita, 1977, Etiology of congenital muscular dystrophy (Fukuyama type), Jpn J Clin Med (Osaka), 35, 3929
Indo, 1970, An autopsy case of congenital muscular dystrophy (abst), Trans Soc Path Jpn, 59, 194
Konishi, 1974, An autopsy case of congenital muscular dystrophy, Brain Dev (Domestic Ed) (Tokyo), 6, 320
Kamoshita, 1975, Congenital muscular dystrophy as a disease of the central nervous system, Arch Neurol, 33, 513, 10.1001/archneur.1976.00500070055011
Murakami, 1975, Congenital muscular dystrophy associated with micropolygyria — report of two cases, Acta Path Jpn, 25, 599
Tsukagoshi H, Toyokura Y, Iwata M, Sugita H, Murata S. An autopsy case of Fukuyama type congenital muscular dystrophy. In: Okinaka S, ed. ollection of papers on progressive muscular dystrophy, granted by the Ministry of Health and Welfare of Japan (II). 1973:25–30.
Morimatsu, 1975, Developmental disturbance of the brain — based on neuropathology of severe cerebral palsy, Brain Dev (Domestic Ed) (Tokyo), 7, 190
Ogasawara, 1976, Neuropatho-logical studies on two cases of congenital muscular dystrophy, with special reference to morphological characteristics of micropolygyria found in the cerebral and cerebellar cortex, Brain Nerve (Tokyo), 28, 451
Itoga, 1911, An autopsy case of Fukuyama type congenital muscular dystrophy (abst), Adv Neurol Sci (Tokyo), 21, 602
Shinoda, 1979, An autopsy case of congenital muscular dystrophy, 235
Toyokura, 1979, A pathological study on cerebral cortex in the Fukuyama type congenital muscular dystrophy -vascular structures in verrucose dysplasia lesions—, 117
Iida, 1979, A histopathological study on congenital muscular dystrophy, 238
Iida, 1980, A consideration on the pathogenesis of brain pathology in Fukuyama type congenital muscular dystrophy, 385
Iida, 1980, A histopathology of spinal anterior horns and roots in congenital and Duchenne types progressive muscular dystrophy
Kurisaki, 1979, Two autopsy cases of congenital muscular dystrophy
Fujii, 1979, An autopsy case of congenital muscular dystrophy (Fukuyama type)
Wada, 1980, Studies on autopsy cases with progressive muscular dystrophy. With special emphasis on cardiac findings in congenital muscular dystrophy (Fukuyama type), 317
Koide, 1979, Pathology of cerebellar poly-microgyria (abst)
Takada, 1980, Two autopsy cases of the Fukuyama type congenital muscular dystrophy. With emphasis on morphological findings of the spinal anterior root
Nishitani, 1980, Two autopsy cases of congenital muscular dystrophy (Fukuyama type)
Shinoda, 1980, Three autopsy cases of congenital muscular dystrophy (Fukuyama type)-with emphasis on the central nervous system lesions—
Chou, 1976, Reappraisal of the neuropathology of Fukuyama type progressive muscular dystrophy
Jervis, 1955, Progressive muscular dystrophy with extensive demyelination of the brain, J Neuropath Exp Neurol, 14, 376
Nihei, 1980, Three cases of congenital muscular dystrophy associated with congenital heart malformations
Ito, 1968, Electron microscopic study of human dystrophic muscle, Clin Neurol (Tokyo), 8, 685
Segawa, 1971, Histological, histochemical and electron microscopical studies on biopsied muscle of congenital muscular dystrophy (arthrogrypotic type congenital muscular dystrophy with mental retardation and facial muscle involvement), Brain Dev (Domestic Ed) (Tokyo), 3, 21
Nonaka, 1972, An electron microscopical study of the muscle in congenital muscular dystrophy, Kumamoto Med J, 25, 68
Nonaka, 1972, Clinical and muscle histology findings in congenital muscular dystrophy (Fukuyama type), J Pediatr Pract (Tokyo), 35, 964
Nonaka, 1973, An ultrastructural observation of satellite cells in the biopsied muscle of congenital muscular dystrophy, Brain Dev (Domestic Ed) (Tokyo), 5, 520
Saida K, Nishitani H, Hirotani H, Hojo H, Kyogoku M, Fukase H. A quantitative analysis of biopsied muscle tissues from cases with congenital muscular dystrophy. In: Okinaka S, ed. A collection of papers on progressive muscular dystrophy, granted by the Ministry of Health and Welfare of Japan (II). 1973:142–7.
Suzuki, 1974, Histochemical study of biopsied skeletal muscle in floppy infant syndrome with special emphasis on the role of central neural influence in the pathogenesis, Acta Paediatr Jpn (Tokyo), 78, 345
Tanimura, 1974, Ultrastructural study of skeletal muscle in floppy infant syndrome - with special emphasis on the cases of central nervous system disorders with marked hypotonia, Acta Paediatr Jpn (Tokyo), 78, 470
Uono, 1970, Histopathological and histochemical changes in various types of muscular dystrophy, Acta Histochem Cytochem, 3, 52, 10.1267/ahc.3.52
Uono, 1972
Tanabe, 1975, Muscle biopsy in muscular dystrophy, Neurol Med (Tokyo), 3, 209
Mukoyama, 1978, Muscle pathology in the Fukuyama type congenital muscular dystrophy, 66
Tanabe, 1979, Characteristic features of muscle pathology in various types of progressive muscular dystrophy, 97
Misugi, 1980, Light and electron microscopic studies of congenital muscular dystrophy, Brain Dev, 2, 191, 10.1016/S0387-7604(80)80039-8
Nonaka, 1980, A histochemical study of skeletal muscle in the Fukuyama type congenital muscular dystrophy — with special emphasis on the comparison with Duchenne muscular dystrophy—
Segawa, 1978, Studies on pathogenesis of Fukuyama type congenital muscular dystrophy—Part 1, 114
Fukuyama, 1979, Serum antibody titers against various viruses in congenital muscular dystrophy (Fukuyama type), 225
Kondo, 1980, A study on immunoglobulins and immune complexes in serum and CSF from patients with the Fukuyama type congenital muscular dystrophy
Hansson, 1975, Generalized myopathy and cerebral malformations possibly related to an enteroviral infection, Acta Paediatr Scand, 64, 881, 10.1111/j.1651-2227.1975.tb03942.x
Drachman, 1976, Experimental arthrogryposis caused by viral myopathy, Arch Neurol, 33, 362, 10.1001/archneur.1976.00500050048009
Inaba, 1975, Akabane disease: epizootic abortion, premature birth, stillbirth and congenital arthrogryposis-hydranencephaly in cattle, sheep and goats caused by Akabane virus, Aust Vet J, 51, 584, 10.1111/j.1751-0813.1975.tb09397.x
Kurogi, 1976, Epizootic congenital arthrogryposis-hydranencephaly syndrome in cattle: isolation of Akabane virus from affected fetuses, Arch Virol, 51, 67, 10.1007/BF01317835
Sato, 1978, Arthrogryposis multiplex congenita caused by Akabane virus in calves and lower motor neuron degeneration in hamsters inoculated with virus, 34
Sato, 1979, Arthrogryposis multiplex congenita caused by Akabane virus in calves and experimental inoculation of the virus into hamsters, Adv Neurol Sci (Tokyo), 23, 461
Saito, 1980, Experimental intrauterine infection of Akabane virus-pathological studies of skeletal muscles and central nervous system of newborn hamsters—, Brain Dev (Domestic Ed) (Tokyo), 12, 519
Saito, 1981, Experimental intrauterine infection of Akabane virus: pathological studies of skeletal muscles and central nervous system of newborn hamsters — with relevance to the Fukuyama type congenital muscular dystrophy, Brain Dev, 3, 65, 10.1016/S0387-7604(81)80008-3
Ueda, 1970, Genetics of congenital muscular dystrophy, Pharmaceut Rev (Osaka), 21, 8
Kondo, 1974, Genetics of congenital progressive muscular dystrophy (Fukuyama type)
Fukuyama, 1974, Clinics and genetics of congenital progressive muscular dystrophy (abst), Jpn J Hum Genet (Tokyo), 19, 42
Imaizumi, 1975, Inbreeding in Japan: result of a nationwide study, Jpn J Hum Genet (Tokyo), 20, 91
Yamagata, 1967, A case of congenital progressive muscular dystrophy, J Pediatr Pract (Tokyo), 30, 792
Ogimi, 1971, Three siblings affected by congenital multiple arthrogryposis, J Pediatr Pract (Tokyo), 34, 65