Congenital megaconial myopathy due to a novel defect in the choline kinase Beta gene.
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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 changes in muscle.Results
This patient had the same clinical and laboratory features reported in the first cohort of patients, but he harbored a novel CHKB mutation and had isolated cytochrome c oxidase deficiency in muscle.Conclusions
Besides confirming the phenotype of CHKB mutations, we propose that this disorder affects the mitochondria-associated membrane and the impaired phospholipid metabolism in the mitochondria-associated membrane causes both the abnormal size and displacement of muscle mitochondria.
SUBMITTER: Gutierrez Rios P
PROVIDER: S-EPMC8276349 | biostudies-literature |
REPOSITORIES: biostudies-literature
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