By Frank L. Mastaglia MD(WA) FRACP FRCP, David Hilton-Jones MD FRCP FRCPE
Read or Download Myopathies and Muscle Diseases: Handbook of Clinical Neurology Vol 86 (Series Editors: Aminoff, Boller and Swaab) PDF
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Extra info for Myopathies and Muscle Diseases: Handbook of Clinical Neurology Vol 86 (Series Editors: Aminoff, Boller and Swaab)
Some clinicians may be confronted by very few in their working careers. A web-based database with video and histopathological data on the spectrum of phenotypes in genetically proven cases, described by the clinician expert in that disease, would be extremely useful. It would be especially helpful to have video of patients with genetically proven disease but unusual phenotypes. It remains to be seen how much lumping and splitting will occur following the identification of the genetic basis of the rarer congenital myopathies.
2004b). Magnetic resonance imaging of muscle in nemaline myopathy. Neuromuscul Disord 14: 779–784. Jungbluth H, Zhou H, Bertini E, et al. (2005a). Autosomal dominant mutations in the human ryanodine receptor (RYR1) gene associated with centronuclear myopathy. Neuromuscul Disord 15: 681. Jungbluth H, Zhou H, Hartley L, et al. (2005b). Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene. Neurology 65: 1930–1935. Kaimaktchiev V, Goebel H, Laing N, et al.
Congenital myopathies. Curr Neurol Neurosci Rep 4: 68–73. Bucher HU, Boltshauser E, Briner J (1985). Neonatal nemaline myopathy presenting with multiple joint contractures. Eur J Pediatr 144: 288–290. Buj-Bello A, Laugel V, Messaddeq N, et al. (2002). The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice. Proc Natl Acad Sci U S A 99: 15060–15065. Caforio AL, Rossi B, Risaliti R, et al. (1989). Type 1 fiber abnormalities in skeletal muscle of patients with hypertrophic and dilated cardiomyopathy: evidence of subclinical myogenic myopathy.