Biochemical and genetic studies in a family with mitochondrial myopathy
Terry D. Heiman-Patterson MD
Department of Neurology, Thomas Jefferson University, 111 S. 11th St., Philadelphia, Pennsylvania 19107, USA
Search for more papers by this authorZohar Argov MD
Department of Neurology, Hadassah University Hospital, Jerusalem, Israel
Search for more papers by this authorJeffrey M. Chavin MD
Department of Neurology, Thomas Jefferson University, 111 S. 11th St., Philadelphia, Pennsylvania 19107, USA
Search for more papers by this authorBernadette Kalman MD, PhD
Department of Neurology, Thomas Jefferson University, 111 S. 11th St., Philadelphia, Pennsylvania 19107, USA
Search for more papers by this authorHansjuerg Alder PhD
Department of Microbiology, Kimmel Cancer Center, Philadelphia, Pennsylvania, USA
Search for more papers by this authorSalvatore DiMauro MD
Department of Neurology, Columbia Presbyterian Medical Center, New York, New York, USA
Search for more papers by this authorWilliam Bank MD
Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, USA
Search for more papers by this authorCorresponding Author
Albert J. Tahmoush MD
Department of Neurology, Thomas Jefferson University, 111 S. 11th St., Philadelphia, Pennsylvania 19107, USA
Department of Neurology, Thomas Jefferson University, 111 S. 11th St., Philadelphia, Pennsylvania 19107, USASearch for more papers by this authorTerry D. Heiman-Patterson MD
Department of Neurology, Thomas Jefferson University, 111 S. 11th St., Philadelphia, Pennsylvania 19107, USA
Search for more papers by this authorZohar Argov MD
Department of Neurology, Hadassah University Hospital, Jerusalem, Israel
Search for more papers by this authorJeffrey M. Chavin MD
Department of Neurology, Thomas Jefferson University, 111 S. 11th St., Philadelphia, Pennsylvania 19107, USA
Search for more papers by this authorBernadette Kalman MD, PhD
Department of Neurology, Thomas Jefferson University, 111 S. 11th St., Philadelphia, Pennsylvania 19107, USA
Search for more papers by this authorHansjuerg Alder PhD
Department of Microbiology, Kimmel Cancer Center, Philadelphia, Pennsylvania, USA
Search for more papers by this authorSalvatore DiMauro MD
Department of Neurology, Columbia Presbyterian Medical Center, New York, New York, USA
Search for more papers by this authorWilliam Bank MD
Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, USA
Search for more papers by this authorCorresponding Author
Albert J. Tahmoush MD
Department of Neurology, Thomas Jefferson University, 111 S. 11th St., Philadelphia, Pennsylvania 19107, USA
Department of Neurology, Thomas Jefferson University, 111 S. 11th St., Philadelphia, Pennsylvania 19107, USASearch for more papers by this authorAbstract
We present a family with severe exercise intolerance, progressive proximal weakness, and lactic acidemia. Fifteen of 24 family members in five generations were affected. Since the affected males do not have offspring at this time, the family pedigree is consistent with either maternal or autosomal dominant inheritance. Muscle histochemistry showed ragged-red fibers and electron microscopy showed globular mitochondrial inclusions. Biochemical analysis showed reduced muscle activities of mitochondrial NADH-cytochrome c reductase (1 of 2 patients), succinate-cytochrome c reductase (2 patients), and cytochrome c oxidase (2 patients). For 1 patient, sequence analysis of 44% of the muscle mitochondrial DNA including all 22 transfer RNA regions showed no point mutation with pathogenic significance. Southern blot analysis showed no deletion. Six affected members of the family were treated with methylprednisolone (0.25 mg/kg) for 3 months. Muscle strength, serum lactate, and energy metabolism at rest (measured by 31P magnetic resonance spectroscopy) significantly improved with treatment. © 1997 John Wiley & Sons, Inc. Muscle Nerve 20: 1219–1224, 1997
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