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

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

scholarly journals A novel noncoding FKRP mutation in early onset limb-girdle muscular dystrophy

2019 ◽  
Vol 6 (1) ◽  
pp. e388
Author(s):  
Ezgi Saylam ◽  
Steven A. Moore ◽  
Akilandeswari Aravindhan ◽  
Heather Marton ◽  
Peter L. Nagy ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Early Onset ◽  
Limb Girdle Muscular Dystrophy

scholarly journals A small in-frame deletion within the protease domain of muscle-specific calpain, p94 causes early-onset limb-girdle muscular dystrophy 2A

1998 ◽  
Vol 11 (S1) ◽  
pp. S298-S300 ◽  
Author(s):  
Karsten Häffner ◽  
Astrid Speer ◽  
Christoph Hübner ◽  
Thomas Voit ◽  
Konrad Oexle
Keyword(s):  
Muscular Dystrophy ◽  
Early Onset ◽  
Limb Girdle Muscular Dystrophy ◽  
Protease Domain

Early onset X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy

1997 ◽  
Vol 7 (6-7) ◽  
pp. 444-445
Author(s):  
C.A. Sewry ◽  
E.J. Lichtarowicz-Krynska ◽  
S.B. Manilal ◽  
D. Recan ◽  
J. Taylor ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Early Onset ◽  
Limb Girdle Muscular Dystrophy

scholarly journals Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations inALMS1andDYSF

2015 ◽  
Vol 36 (9) ◽  
pp. 836-841 ◽  
Author(s):  
Csilla H. Lazar ◽  
Adva Kimchi ◽  
Prasanthi Namburi ◽  
Mousumi Mutsuddi ◽  
Lina Zelinger ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Early Onset ◽  
Limb Girdle Muscular Dystrophy

Early-onset limb-girdle muscular dystrophy-2L in a female athlete

2017 ◽  
Vol 55 (5) ◽  
pp. E19-E21 ◽  
Author(s):  
Patrick R. Blackburn ◽  
Duygu Selcen ◽  
Jessica L. Jackson ◽  
Kimberly J. Guthrie ◽  
Margot A. Cousin ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Early Onset ◽  
Female Athlete ◽  
Limb Girdle Muscular Dystrophy

scholarly journals Novel compound heterozygous PLEC mutations lead to early-onset limb-girdle muscular dystrophy 2Q

2017 ◽  
Vol 15 (5) ◽  
pp. 2760-2764 ◽  
Author(s):  
Jingzi Zhong ◽  
Gang Chen ◽  
Yiwu Dang ◽  
Haixia Liao ◽  
Jiapeng Zhang ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Early Onset ◽  
Limb Girdle Muscular Dystrophy ◽  
Compound Heterozygous

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
Sign in / Sign up

Export Citation Format

Share Document