Genetic heterogeneity of autosomal recessive limbgirdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus

1995 ◽  
Vol 4 (3) ◽  
pp. 459-463 ◽  
Author(s):  
V. Allamand ◽  
O. Broux ◽  
N. Bourg ◽  
I. Richard ◽  
J.A. Tischfield ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Genetic Heterogeneity ◽  
Autosomal Recessive ◽  
Genetic Isolate

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 Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability

PLoS ONE ◽  
2018 ◽  
Vol 13 (11) ◽  
pp. e0208324 ◽  
Author(s):  
Megan McSherry ◽  
Katherine E. Masih ◽  
Nursel H. Elcioglu ◽  
Pelin Celik ◽  
Ozge Balci ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Candidate Gene ◽  
Genetic Heterogeneity ◽  
Autosomal Recessive ◽  
Pathogenic Variants
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