Sentence examples for main dystrophic phenotypes from inspiring English sources

Mutations in the dysferlin gene are responsible for three main dystrophic phenotypes: limb-girdle muscular dystrophy type 2B (LGMIMB; MIM# 253601), Miyoshi myopathy (MM; MIM# 254130) and distal myopathy with anterior tibialis onset (DMAT; MIM# 606768).

In principle, dystrophic phenotypes in muscle can arise from enhanced degeneration, defective regeneration, or both.

Collectively, these results imply utrophin does not need to interact with γcyto-actin to attenuate dystrophic phenotypes in mdx skeletal muscle.

These results indicate utrophin can partially abrogate dystrophic phenotypes in mdx skeletal muscle in the absence of a direct link to γcyto-actin filaments.

It should be noted, however, that the FRG1 transgenic mouse model that resulted in dystrophic phenotypes had FRG1 skeletal muscle protein levels considerably higher than that observed in FSHD patients.

Increased HDAC2 in dystrophic muscles contributes to some dystrophic phenotypes, because reduction of HDAC2 partially ameliorates DMD phenotypes (Minetti et al., 2006; Consalvi et al., 2013).

We have previously shown core proteins to be important for preventing the most severe structural dystrophic phenotypes in muscle (12).

Previous studies have shown core adhesome proteins to be most important for preventing severe structural dystrophic phenotypes in muscle (12).

The dystrophic phenotypes observed in response to integrin-adhesome disruption correlate with functional impairment, with representative mutants displaying reduced mitochondrial ATP production capacity and movement force production.

The sply mutation of the Drosophila S1P lyase can suppress dystrophic phenotypes (Kucherenko et al., 2008; Pantoja et al., 2013; Pantoja and Ruohola-Baker, 2013).

CXMDJ dogs lack dystrophin in the sarcolemma of skeletal muscles and exhibit typical dystrophic phenotypes, as observed in DMD and GRMD [ 39, 41].