The clinical and molecular spectrum of autosomal dominant limb-girdle muscular dystrophies focusing on transportinopathy

2019 ◽  
Vol 7 (5) ◽  
pp. 223-232 ◽  
Author(s):  
Corrado Angelini ◽  
Valentina Pegoraro ◽  
Giovanna Cenacchi
Keyword(s):  
Autosomal Dominant ◽  
Molecular Spectrum ◽  
Muscular Dystrophies

Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period

2017 ◽  
Vol 27 (9) ◽  
pp. 793-803 ◽  
Author(s):  
Maria Sframeli ◽  
Anna Sarkozy ◽  
Marta Bertoli ◽  
Guja Astrea ◽  
Judith Hudson ◽  
...  
Keyword(s):  
Large Cohort ◽  
Molecular Spectrum ◽  
Muscular Dystrophies ◽  
The Uk

P.182Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: the clinical and molecular spectrum of 244 patients

2019 ◽  
Vol 29 ◽  
pp. S102
Author(s):  
L. ten Dam ◽  
W. Frankhuizen ◽  
W. Linssen ◽  
C. Straathof ◽  
E. Niks ◽  
...  
Keyword(s):  
The Netherlands ◽  
Molecular Spectrum ◽  
Muscular Dystrophies
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