Mitochondrial Myopathy Associated with a Novel Mutation in MtDNA

Overview

Journal Neuromuscul Disord

Specialty Neurology

Date 2007 Jun 26

PMID 17588757

Citations 11

Authors

Jacklyn Pancrudo

Sara Shanske

Jorida Coku

J Lu

Rebecca Mardach

Orhan Akman

Sindu Krishna

Eduardo Bonilla

Salvatore DiMauro

Affiliations

Soon will be listed here.

Abstract

A 6-year-old boy had progressive muscle weakness since age 4 and emotional problems diagnosed as Asperger syndrome. His mother and two older siblings are in good health and there is no family history of neuromuscular disorders. Muscle biopsy showed ragged-red and cytochrome coxidase (COX)-negative fibers. Respiratory chain activities were reduced for all enzymes containing mtDNA-encoded subunits, especially COX. Sequence analysis of the 22 tRNA genes revealed a novel G10406A base substitution, which was heteroplasmic in multiple tissues of the patient by RFLP analysis (muscle, 96%; urinary sediment, 94%; cheek mucosa, 36%; blood, 29%). The mutation was not detected in any accessible tissues from his mother or siblings. It appears that this mutation arose de novo in the proband, probably early in embryogenesis.

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