Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

1995 ◽  
Vol 10 (2) ◽  
pp. 243-245 ◽  
Author(s):  
F. Piccolo ◽  
S.L. Roberds ◽  
M. Jeanpierre ◽  
F. Leturcq ◽  
K. Azibi ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Autosomal Recessive ◽  
Common Cause

scholarly journals Homozygous nonsense mutation inSGCAis a common cause of limb-girdle muscular dystrophy in Assiut, Egypt

2016 ◽  
Vol 54 (4) ◽  
pp. 690-695 ◽  
Author(s):  
Hemakumar M. Reddy ◽  
Sherifa A. Hamed ◽  
Monkol Lek ◽  
Satomi Mitsuhashi ◽  
Elicia Estrella ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Nonsense Mutation ◽  
Limb Girdle Muscular Dystrophy ◽  
Common Cause ◽  
Homozygous Nonsense Mutation

Early onset, autosomal recessive muscular dystrophy with Emergy-Dreifuss phenotype and normal emerin expression

Neurology ◽  
1998 ◽  
Vol 51 (4) ◽  
pp. 1116-1120 ◽  
Author(s):  
J. Taylor ◽  
C. A. Sewry ◽  
V. Dubowitz ◽  
F. Muntoni
Keyword(s):  
Muscular Dystrophy ◽  
Early Onset ◽  
Autosomal Recessive
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