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

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 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

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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