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2E -"Hexadecenoyl-CoA"
- ... in people with limb-girdle muscular dystrophy type 2E. Limb-girdle muscular dystrophy is a group of ... Some people with limb-girdle muscular dystrophy type 2E also develop a heart condition called dilated cardiomyopathy. ...
- ... type 2D Genetic Testing Registry: Waardenburg syndrome type 2E Genetic Testing Registry: Waardenburg syndrome type 4A Genetic ... WAARDENBURG SYNDROME, TYPE 2C; WS2C WAARDENBURG SYNDROME, TYPE 2E; WS2E WAARDENBURG SYNDROME, TYPE 4B; WS4B WAARDENBURG SYNDROME, ...
- ... OR SEVERE, AUTOSOMAL RECESSIVE; EBS1D EPIDERMOLYSIS BULLOSA SIMPLEX 2E, WITH MIGRATORY CIRCINATE ERYTHEMA; EBS2E PubMed Charlesworth A, ...
- ... PONTOCEREBELLAR HYPOPLASIA, TYPE 7; PCH7 PONTOCEREBELLAR HYPOPLASIA, TYPE 2E; PCH2E PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B PONTOCEREBELLAR HYPOPLASIA, ...
- ... known as limb-girdle muscular dystrophy types 2D, 2E, 2C, and 2F respectively.A TTN gene mutation ...
- ... 64. doi: 10.1097/01.jnen.0000171653.17213.2e. Citation on PubMed
- ... 1D; CMT1D CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E; CMT2E CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B; ...