Congenital Megaconial Myopathy Due to a Novel Defect in the Choline Kinase Beta Gene | Congenital Defects | JAMA Neurology | JAMA Network
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May 2012

Congenital Megaconial Myopathy Due to a Novel Defect in the Choline Kinase Beta Gene

Author Affiliations

Author Affiliations: Departments of Neurology (Drs Gutiérrez Ríos, Tanji, Akman, Area Gómez, Schon, and DiMauro), Pathology (Dr Tanji), and Genetics and Development (Dr Schon), Columbia University Medical Center, New York, New York; and Departments of Neurology (Dr Kalra) and Pathology (Dr Wilson), Louisiana State University Health Sciences Center, Shreveport.

Arch Neurol. 2012;69(5):657-661. doi:10.1001/archneurol.2011.2333

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.