Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3

2005 ◽  
Vol 386 (1) ◽  
Author(s):  
Dieter E. Jenne ◽  
Rudi A. Kley ◽  
Matthias Vorgerd ◽  
J. Michael Schröder ◽  
Joachim Weis ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Sibling Pair ◽  
Calpain 3 ◽  
Alternatively Spliced

scholarly journals Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkBa/NF-kB pathway in limb-girdle muscular dystrophy type 2A

10.1038/10579 ◽  
1999 ◽  
Vol 5 (7) ◽  
pp. 849-849 ◽  
Author(s):  
S. Baghdiguian ◽  
M. Martin ◽  
I. Richard ◽  
F. Pons ◽  
C. Astier ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Calpain 3

scholarly journals Pathogenity of some limb girdle muscular dystrophy mutations can result from reduced anchorage to myofibrils and altered stability of calpain 3

2011 ◽  
Vol 20 (17) ◽  
pp. 3331-3345 ◽  
Author(s):  
Natalia Ermolova ◽  
Elena Kudryashova ◽  
Marino DiFranco ◽  
Julio Vergara ◽  
Irina Kramerova ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Calpain 3

Limb-Girdle Muscular Dystrophy Type 2A Resulting From c.C479G and c.G1818A Mutations in the Calpain-3 Gene

2015 ◽  
Vol 17 (2) ◽  
pp. 59-62 ◽  
Author(s):  
Edwardo Ramos ◽  
Sherly Pardo ◽  
Manuel F. Mas Rodríguez ◽  
John Vélez
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Calpain 3

scholarly journals Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

2000 ◽  
Vol 10 (8) ◽  
pp. 553-559 ◽  
Author(s):  
Louise V.B Anderson ◽  
Ruth M Harrison ◽  
Robert Pogue ◽  
Elizabeth Vafiadaki ◽  
Christine Pollitt ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Calpain 3 ◽  
Miyoshi Myopathy

Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy

2001 ◽  
Vol 11 (6-7) ◽  
pp. 547-555 ◽  
Author(s):  
Jonghee Chae ◽  
Narihiro Minami ◽  
Yuko Jin ◽  
Masahiro Nakagawa ◽  
Kumiko Murayama ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Gene Mutations ◽  
Limb Girdle Muscular Dystrophy ◽  
Calpain 3 ◽  
Pathologic Findings

A proteomic study of calpain-3 and its involvement in limb girdle muscular dystrophy type 2a

Cell Calcium ◽  
2009 ◽  
Vol 46 (5-6) ◽  
pp. 356-363 ◽  
Author(s):  
Ilenia Bertipaglia ◽  
Natalie Bourg ◽  
Isabelle Richard ◽  
Anna-Karin Pahlman ◽  
Liselotte Andersson ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Calpain 3 ◽  
Proteomic Study

scholarly journals Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

Cell ◽  
1995 ◽  
Vol 81 (1) ◽  
pp. 27-40 ◽  
Author(s):  
Isabelle Richard ◽  
Odile Broux ◽  
Valéerie Allamand ◽  
Françoise Fougerousse ◽  
Nuchanard Chiannilkulchai ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Proteolytic Enzyme ◽  
Limb Girdle Muscular Dystrophy ◽  
Calpain 3
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