Sentence examples for mutations presenting with from inspiring English sources

Thus, higher activation levels of AMPK may be a general feature of mouse models carrying Scn4a mutations presenting with intermittent immobility attacks.

All patients (including the nine cases with 10+16 intronic mutations) presenting with behavioural variant FTD syndrome had prominent disinhibition and developed semantic impairment with profound anomia and episodic memory impairment as the disease progressed.

Interestingly, three subjects with CYP2U1 mutations presented with a thin corpus callosum, white-matter abnormalities, and/or calcification of the basal ganglia.

A French patient with ABCA3 mutations presented with combined pulmonary fibrosis and emphysema (CPFE) [ 46].

The two patients with KCNJ11 mutations presented with diabetes between 1 and 3 months of age.

Additionally, 24%% of Coffin-Siris patients without identified mutations presented with short stature.

Four patients with SF1 mutations presented with the similar phenotype of mild gonadal dysgenesis, severe underandrogenization, and absent Müllerian structures.

In a separate study, 38% of patients with C9ORF72 mutations presented with psychosis, with an additional 28% exhibiting paranoid, deluded or irrational thinking [ 59].

All patients with congenital TTP, regardless of their ADAMTS13 mutations, presented with undetectable levels of ADAMTS13 antigen, whereas patients with acquired TTP presented a normal phenotype.

Clinically, the four patients identified by Bainbridge et al. with de novo ASXL3 mutations presented with several features similar to BOS (Table 1).

> -wrap-foot> > -wrap-foot> All patients with pathogenic mutations presented with symptoms suggestive of peripheral neuropathy within the first year of life.