Neurology / Neuropediatrics
-
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
-
Limb-girdle muscular dystrophy type 2I (LGMD2I, sequence analysis of FKRP gene)
+ info
-
Limb-girdle muscular dystrophy type 2J (LGMD2J, sequence analysis of TTN gene)
+ info
-
Limb-girdle muscular dystrophy, type 1G (sequence analysis of HNRNPDL gene)
+ info
-
Limb-girdle myasthenia syndrome, familial (sequence analysis of AGRN gene)
+ info
-
Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency (deletion/duplication analysis on FLAD1 gene)
+ info
