Muscle in health and disease


1.Sewry CA Dubowitz V. Histochemistry and immunocytochemistry of muscle in health and disease. In: Karpati G Hilton-Jones D Griggs RC, eds. Disorders of Voluntary Muscle, 7th ed. New York: Cambridge University Press, 2001:257

2.Pegoraro E Mancias P Swerdlow SHet al. . Congenital muscular dystrophy with primary laminin alpha2 (merosin) deficiency presenting as inflammatory myopathy. Ann Neurol 1996;40:782–91

3.Marbini A Bellanova MF Ferrari Aet al. . Immunohistochemical study of merosin-negative congenital muscular dystrophy: Laminin alpha 2 deficiency in skin biopsy. Acta Neuropathol (Berl) 1997;94:103–8


4.Cohn RD Herrmann R Sorokin Let al. . Laminin alpha2 chain-deficient congenital muscular dystrophy: Variable epitope expression in severe and mild cases. Neurology 1998;51:94–100

5.Cohn RD Herrmann R Wewer UMet al. . Changes of laminin beta 2 chain expression in congenital muscular dystrophy. Neuromuscul Disord 1997;7:373–78


6.Hodges BL Hayashi YK Nonaka Iet al.  Altered expression of the alpha7beta1 integrin in human and murine muscular dystrophies. J Cell Sci 1997;110 (Pt 22):2873–81

 7.Brockington M Blake DJ Prandini Pet al. . 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. Am J Hum Genet 2001;69:1198–209


8.Jimenez-Mallebrera C Torelli S Brown SCet al. . Profound skeletal muscle depletion of alpha-dystroglycan in Walker-Warburg syndrome. Eur J Paediatr Neurol 2003;7:129–37

 9.Poppe M Cree L Bourke Jet al. . The phenotype of limb-girdle muscular dystrophy type 2I. Neurology 2003;60:1246–51

10.Hoffman EP Pegoraro E. Collagen VI gene mutations: Bethlem myopathy/limb-girdle muscular dystrophy. In: Karpati G, ed. Structural and Molecular Basis of Skeletal Muscle Diseases. Basel: ISN Neuropath Press, 2002:42

11.Merlini L Villanova M Sabatelli Pet al. . Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy. Neuromuscul Disord 1999;9:326–29

 12.Morandi L Barresi R Di Blasi Cet al. . Clinical heterogeneity of adhalin deficiency. Ann Neurol 1996;39:196–202


13.Ishikawa H Sugie K Murayama Ket al. . Ullrich disease due to deficiency of collagen VI in the sarcolemma. Neurology 2004;62:620–23

 14.Voit T Tome FMS. The congenital muscular dystrophies. In: Engel AG Franzini-Armstrong C, eds. Myology, vol. 2. New York: McGraw-Hill, 2004:1230

15.Brockington M Brown SC Lampe Aet al. . Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry. Prenat Diagn 2004;24:440–44


16.Nicholson LV Johnson MA Gardner-Medwin Det al. . Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy. Acta Neuropathol (Berl) 1990;80:239–50

17.Hoffman EP. Dystrophinopathies. In: Karpati G Hilton-Jones D Griggs RC, eds. Disorders of Voluntary Muscle, 7th ed. New York: Cambridge University Press, 2001:385–432

Leave a Reply

Your email address will not be published. Required fields are marked *