P1.16 Novel mutations and loci are associated with limb girdle muscular dystrophy type 2

2010 ◽  
Vol 20 (9-10) ◽  
pp. 604-605
Author(s):  
S.E. Boyden ◽  
M.A.M. Salih ◽  
E.A. Estrella ◽  
A.J. White ◽  
A.R. Duncan ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Novel Mutations

scholarly journals Efficient identification of novel mutations in patients with limb girdle muscular dystrophy

Neurogenetics ◽  
2010 ◽  
Vol 11 (4) ◽  
pp. 449-455 ◽  
Author(s):  
Steven E. Boyden ◽  
Mustafa A. Salih ◽  
Anna R. Duncan ◽  
Alexander J. White ◽  
Elicia A. Estrella ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Novel Mutations

Frequency of the FKRP mutation c.826C>A in isolated hyperCKemia and in limb girdle muscular dystrophy type 2 in German patients

2009 ◽  
Vol 257 (2) ◽  
pp. 300-301 ◽  
Author(s):  
Frank Hanisch ◽  
Dörte Grimm ◽  
Stephan Zierz ◽  
Marcus Deschauer
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy

Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type 2 and isolated hyperCKemia in German patients

2007 ◽  
Vol 26 (07) ◽  
pp. 157-163 ◽  
Author(s):  
F. Hanisch ◽  
C.R. Müller ◽  
D. Grimm ◽  
L. Xue ◽  
K. Traufeller ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Calpain 3

Confirmation of linkage of limb-girdle muscular dystrophy, type 2, to chromosome 15

Genomics ◽  
1992 ◽  
Vol 13 (4) ◽  
pp. 1370-1371 ◽  
Author(s):  
K. Young ◽  
T. Foroud ◽  
P. Williams ◽  
C.E. Jackson ◽  
J.S. Beckmann ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Chromosome 15

scholarly journals Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease

2015 ◽  
Vol 25 (11) ◽  
pp. 835-842 ◽  
Author(s):  
Johanna Palmio ◽  
Per Harald Jonson ◽  
Anni Evilä ◽  
Mari Auranen ◽  
Volker Straub ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Early Onset ◽  
Limb Girdle Muscular Dystrophy ◽  
Novel Mutations

Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type 2 and isolated hyperCKemia in German patients

2006 ◽  
Vol 33 (S 1) ◽  
Author(s):  
D. Grimm ◽  
F. Hanisch ◽  
X. Liu ◽  
C. Müller-Reible ◽  
S. Zierz ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Calpain 3

scholarly journals Novel mutations in the anoctamin 5 gene (ANO5 ) associated with limb-girdle muscular dystrophy 2L

2012 ◽  
Vol 47 (2) ◽  
pp. 287-291 ◽  
Author(s):  
Ann A. Little ◽  
Paul E. Mckeever ◽  
Kirsten L. Gruis
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Novel Mutations
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