Abstract
Congenital muscular dystrophy (CMD) refers to a group of genetic disorders in which weakness and an abnormal muscle biopsy are present at birth.
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Aida, N. (1998). Fukuyama congenital muscular dystrophy: A neuroradiologic review. Journal of Magnetic Resonance Imaging, 8, 317–326.
Allamand, V., & Guicheney, P. (2002). Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin). European Journal of Human Genetics, 10, 91–94.
Bertini, E., D’Amico, A., Gualandi, F., et al. (2011). Congenital muscular dystrophies: A brief review. Seminars in Pediatric Neurology, 18, 277–288.
Bharucha-Goebel, D. X., Santi, M., Medne, L., et al. (2013). Severe congenital RYR1-associated myopathy: The expanding clinicopathologic and genetic spectrum. Neurology, 80, 1584–1589.
Bonnemann, C. G., Wang, C. H., Quijano-roy, S., et al. (2014). Diagnostic approach to the congenital muscular dystrophies. Neuromuscular Disorders, 24, 289–311.
Brockington, M., Blake, D. J., Prandini, P., et al. (2001a). Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. American Journal of Human Genetics, 69, 1198–1209.
Brockington, M., Yuva, Y., Prandini, P., et al. (2001b). Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Human Molecular Genetics, 10, 2851–2859.
Cardamone, M., Darras, B. T., & Ryan, M. M. (2008). Inherited myopathies and muscular dystrophies. Seminars in Neurology, 28, 250–259.
Caro, P. A., Scavina, M., Hoffman, E., et al. (1999). MR imaging findings in children with merosin-deficient congenital muscular dystrophy. AJNR. American Journal of Neuroradiology, 20, 324–326.
Chijiiwa, T., Nishimura, M., Inomata, H., et al. (1983). Ocular manifestations of congenital muscular dystrophy (Fukuyama type). Annals of Ophthalmology, 15(921–923), 926–928.
Cormand, B., Pihko, H., Bayés, M., et al. (2001). Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology, 56, 1059–1069.
Flanigan, K. M., Kerr, L., Bromberg, M. B., et al. (2000). Congenital muscular dystrophy with rigid spine syndrome: A clinical, pathological, radiological, and genetic study. Annals of Neurology, 47, 152–161.
Fukuyama, Y., & Ohsawa, M. (1984). A genetic study of the Fukuyama type congenital muscular dystrophy. Brain & Development, 6, 373–390.
Fukuyama, Y., Osawa, M., & Suzuki, H. (1981). Congenital progressive muscular dystrophy of the Fukuyama type – Clinical, genetic and pathological considerations. Brain & Development, 3, 1–29.
Guicheney, P., Vignier, N., Helbling-Leclerc, A., et al. (1997). Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: From identification of mutations to prenatal diagnosis. Neuromuscular Disorders, 7, 180–186.
Guicheney, P., Vignier, N., Zhang, X., et al. (1998). PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): Application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy. Journal of Medical Genetics, 35, 211–217.
Helbling-Leclerc, A., Zhang, X., Topaloglu, H., et al. (1995). Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nature Genetics, 11, 216–218.
Iannaccone, S. T., & Castro, D. (2013). Congenital muscular dystrophies and congenital myopathies. Continuum (Minneap Minn), 19, 1509–1534.
Jones, K., & North, K. (2003). The congenital muscular dystrophies. In H. R. Jones, D. C. De Vivo, & B. T. Darras (Eds.), Neuromuscular disorders of infancy, childhood, and adolescence: A clinician’s approach (pp. 633–634). Philadelphia: Butterworth Heinemann.
Kang, P. B., Morrison, L., Iannaccone, S. T., et al. (2015). Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology, 84, 1369–1378.
Kobayashi, O., Hayashi, Y., Arahata, K., et al. (1996). Congenital muscular dystrophy: Clinical and pathologic study of 50 patients with the classical (Occidental) merosin-positive form. Neurology, 46, 815–818.
Kondo, E., Saito, K., Toda, T., et al. (1996). Prenatal diagnosis of Fukuyama type congenital muscular dystrophy by polymorphism analysis. American Journal of Medical Genetics, 66, 169–174.
Kondo-Iida, E., Saito, K., Tanaka, H., et al. (1997). Molecular genetic evidence of clinical heterogeneity in Fukuyama-type congenital muscular dystrophy. Human Genetics, 99, 427–432.
Kondo-Iida, E., Kobayashi, K., Watanabe, M., et al. (1999). Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD). Human Molecular Genetics, 8, 2303–2309.
Leyten, Q. H., Gabreels, F. J., Joosten, E. M., et al. (1986). An autosomal dominant type of congenital muscular dystrophy. Brain & Development, 8, 533–537.
Leyten, Q. H., Gabreels, F. J., Renier, W. O., et al. (1996). Congenital muscular dystrophy: A review of the literature. Clinical Neurology and Neurosurgery, 98, 267–280.
Lopate, G. (2015). Congenital muscular dystrophy. eMedicine from WebMD. Updated 24 Dec 2015. Available at: http://emedicine.medscape.com/article/1180214-overview
Mercuri, E., & Muntoni, F. (2012). The ever-expanding spectrum of congenital muscular dystrophies. Annals of Neurology, 72, 9–17.
Mitsuhashi, S., Ohkuma, A., Talim, B., et al. (2011). A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. American Journal of Human Genetics, 88, 845–851.
Muntoni, F., & Voit, T. C. (2004). The congenital muscular dystrophies in 2004: A century of exciting progress. Neuromuscular Disorders, 14, 635–649.
Naom, I., Sewry, C., D’Alessandro, M., et al. (1997). Prenatal diagnosis in merosin-deficient congenital muscular dystrophy. Neuromuscular Disorders, 7, 176–179.
Nass, D., Goldberg, I., & Sadeh, M. (1999). Laminin alpha2 deficient congenital muscular dystrophy: Prenatal diagnosis. Early Human Development, 55, 19–24.
Nishino, I., Kobayashi, O., Goto, Y., et al. (1998). A new congenital muscular dystrophy with mitochondrial structural abnormalities. Muscle & Nerve, 21, 40–47.
O’Grady, G. L., Best, H. A., Oates, E. C., et al. (2015). Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine. European Journal of Human Genetics, 23, 883–886.
Quijano-Roy, S., Renault, F., Romero, N., et al. (2004). EMG and nerve conduction studies in children with congenital muscular dystrophy. Muscle and Nerve, 29, 292–299.
Santavuori, P., Leisti, J., & Kruus, S. (1977). Muscle, eye, and brain disease: A new syndrome. Neuropediatrics, 8(suppl), 553–558.
Schara, U., Kress, W., Bonnemann, C. G., et al. (2008). The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. European Journal of Paediatric Neurology, 12, 224–230.
Sombekke, B. H., Molenaar, W. M., van Essen, A. J., et al. (1994). Lethal congenital muscular dystrophy with arthrogryposis multiplex congenita: Three new cases and review of the literature. Pediatric Pathology, 14, 277–285.
Sparks, S., Quijano-Roy, S., Harper, A., et al. (2012). Congenital muscular dystrophy overview. GeneReviews. Updated 23 Aug 2012. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1291/
Takai, Y., Tsutsumi, O., Harada, I., et al. (1998). Prenatal diagnosis of Fukuyama-type congenital muscular dystrophy by microsatellite analysis. Human Reproduction, 13, 320–323.
Toda, T., Segawa, M., Nomura, Y., et al. (1993). Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. Nature Genetics, 5, 283–286.
Toda, T., Kobayashi, K., Kondo-Iida, E., et al. (2000). The Fukuyama congenital muscular dystrophy story. Neuromuscular Disorders, 10, 153–159.
Topaloglu, H., Renda, Y., Yalaz, K., et al. (1990). Classification of congenital muscular dystrophy. Journal of Pediatrics, 117, 166–167.
Valencia, C. A., Rhodenizer, D., Bhide, S., et al. (2012). Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy. The Journal of Molecular Diagnostics, 14, 233–246.
Voit, T. (1998). Congenital muscular dystrophies: 1997 update. Brain & Development, 20, 65–74.
Yoshioka, M., & Kuroki, S. (1994). Clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy. American Journal of Medical Genetics, 53, 245–250.
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Chen, H. (2017). Congenital Muscular Dystrophy. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_55
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DOI: https://doi.org/10.1007/978-1-4939-2401-1_55
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