Mitochondrial cardioencephalomyopathy due to a novel SCO2 mutation in a Brazilian patient: case report and literature review.

ABSTRACT:

Objectives

To review all patients with SCO2 mutations and to describe a Brazilian patient with cardioencephalomyopathy carrying compound heterozygous mutations in SCO2, one being the known pathogenic p.E140K mutation and the other a novel 12-base pair (bp) deletion at nucleotides 1519 through 1530 (c.1519_1530del).

Design

Case report and literature review.

Setting

University hospital.

Patient

Infant girl presenting with an encephalomyopathy, inspiratory stridor, ventilator failure, progressive hypotonia, and weakness, leading to death.

Main outcome measures

Clinical features, neuroimaging findings, muscle biopsy with histochemical analysis, and genetic studies.

Results

This infant girl was the first child of healthy, nonconsanguineous parents. She

SUBMITTER: Gurgel-Giannetti J 

PROVIDER: S-EPMC4967497 | biostudies-literature | 2013 Feb

REPOSITORIES: biostudies-literature