Neurology / Neuropediatrics
-
Limb-girdle muscular dystrophies (NGS panel of 42 genes)
+ info
-
Limb-girdle muscular dystrophy (deletion/duplication analysis on SGCA, SGCB, SGCD, SGCG and FKRP genes)
+ info
-
Limb-girdle muscular dystrophy - dystroglycanopathy type C2 (MDDGC2, sequence analysis of POMT2 gene)
+ info
-
Limb-girdle muscular dystrophy 2A (LGMD2A, sequence analysis of CAPN3 gene)
+ info
-
Limb-girdle muscular dystrophy type 1A (LGMD1A, deletion/duplication analysis of MYOT gene)
+ info
-
Limb-girdle muscular dystrophy type 1A (LGMD1A, sequence analysis of MYOT gene)
+ info
-
Limb-girdle muscular dystrophy type 1B (LGMD1B, sequence analysis of LMNA gene)
+ info
-
Limb-girdle muscular dystrophy type 1E (LGMD1E, sequence analysis of DNAJB6 gene)
+ info
-
Limb-girdle muscular dystrophy type 2A (LGMD2A, deletion/duplication analysis on CAPN3 gene)
+ info
-
Limb-girdle muscular dystrophy type 2B (2 mutations on DYSF gene)
+ info
-
Limb-girdle muscular dystrophy type 2B (LGMD2B, deletion/duplication analysis of DYSF gene)
+ info
-
Limb-girdle muscular dystrophy type 2B (LGMD2B, sequence analysis of DYSF gene)
+ info
-
Limb-girdle muscular dystrophy type 2C (LGMD2C, p.Cys283Tyr mutation on SGCG gene)
+ info
-
Limb-girdle muscular dystrophy type 2C (LGMD2C, sequence analysis of SGCG gene)
+ info
-
Limb-girdle muscular dystrophy type 2D (LGMD2D, sequence analysis of SGCA gene)
+ info
-
Limb-girdle muscular dystrophy type 2E (LGMD2E, sequence analysis of SGCB gene)
+ info
-
Limb-girdle muscular dystrophy type 2F (LGMD2F, sequence analysis of SGCD gene)
+ info
-
Limb-girdle muscular dystrophy type 2G (LGMD2G, sequence analysis of TCAP gene)
+ info
-
Limb-girdle muscular dystrophy type 2H (LGMD2H) | Bardet-Biedl syndrome type 11 (deletion/duplication analysis on TRIM32 gene)
+ info
-
Limb-girdle muscular dystrophy type 2H (LGMD2H, sequence analysis of TRIM32 gene)
+ info
