September 23, 2014Työväentutkimus VuosikirjaOpen Access

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

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Structured PICO

Population

21 patients from 14 families with severe, usually lethal, nemaline myopathy (NM), and a zebrafish model

Intervention

Whole-exome sequencing (WES) and Sanger sequencing; knockdown of lmod3 in zebrafish

Outcome

Identification of pathogenic genetic variants and functional/pathological phenotypes of lmod3 knockdownsurrogate

Mutations in LMOD3 cause severe congenital nemaline myopathy by disrupting sarcomeric thin filament organization.

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LMOD3 testing may aid severe NM diagnosis; leaves open targeted therapies pending validation.

Yuen et al. (2014) studied this question.

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