Enzymes: Cytosolic Proteins Calpain-3, SEPN1, and GNE

Muscle Disease: Pathology and Genetics: Second Edition

Volumn , Issue , 2013, Pages 225-233

  Straub, Volker ^a   De Waele, Liesbeth ^b   Barresi, Rita ^c  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^c NEWCASTLE DENTAL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 85016910075     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1002/9781118635469.ch24     Document Type: Chapter

References (78)

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28. De Paula F, Vainzof M, Passos-Bueno MR, et al. Clinical variability in calpainopathy: what makes the difference? Eur J Hum Genet 2002; 10: 825-32.
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32. Starling A, de Paula F, Silva H, Vainzof M, Zatz M. Calpainopathy: how broad is the spectrum of clinical variability? J Mol Neurosci 2003; 21: 233-6.
33. Mercuri E, Bushby K, Ricci E, et al. Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures. Neuromuscul Disord 2005; 15: 164-71.
34. Charlton R, Henderson M, Richards J, et al. Immunohistochemical analysis of calpain 3: advantages and limitations in diagnosing LGMD2A. Neuromuscul Disord 2009; 19: 449-57.
35. Fanin M, Nascimbeni AC, Fulizio L, et al. Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression. Am J Pathol 2003; 163: 1929-36.
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