Congenital megaconial myopathy due to a novel defect in the choline kinase Beta gene.

ABSTRACT:

Objectives

To describe the first American patient with a congenital muscle dystrophy characterized by the presence in muscle of gigantic mitochondria displaced to the periphery of the fibers and to stress the potential origin and effects of the mitochondrial changes.

Design

Case report and documentation of a novel mutation in the gene encoding choline kinase beta (CHKB).

Setting

Collaboration between 2 tertiary care academic institutions.

Patient

A 2-year-old African American boy with weakness and psychomotor delay.

Interventions

Detailed clinical and laboratory studies, including muscle biopsy, biochemical analysis of the mitochondrial respiratory chain, and sequencing of the CHKB gene.

Main outcome measures

Definition of unique mitochondrial cha

SUBMITTER: Gutierrez Rios P 

PROVIDER: S-EPMC8276349 | biostudies-literature | 2012 May

REPOSITORIES: biostudies-literature