2010
DOI: 10.1001/archneurol.2010.200
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Isolated Distal Myopathy of the Upper Limbs Associated With Mitochondrial DNA Depletion and Polymerase γ Mutations

Abstract: Setting: University-based outpatient neurology clinic and pathology and genetics laboratory.Patient: A 27-year-old man presenting with isolated distal myopathy of the upper extremities in the absence of sensory disturbances.Results: Histochemical analysis of a muscle biopsy specimen showed numerous cytochrome c oxidase-deficient fibers. Molecular analysis revealed marked depletion of muscle mitochondrial DNA in the absence of multiple mitochondrial DNA deletions. Sequence analysis of the POLG gene revealed het… Show more

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Cited by 17 publications
(10 citation statements)
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“…Although distal myopathy has been previously described in POLG-related diseases (Giordano et al, 2010), it had an adult-onset. Skeletal muscle weakness and exercise intolerance can accompany PEO (Luoma et al, 2004); however, most of the previous reports with either neuropathy or myopathy caused by a heterozygous POLG mutation have been reported in older subjects (Milone and Massie, 2010;Wong et al, 2008).…”
Section: Discussionmentioning
confidence: 98%
“…Although distal myopathy has been previously described in POLG-related diseases (Giordano et al, 2010), it had an adult-onset. Skeletal muscle weakness and exercise intolerance can accompany PEO (Luoma et al, 2004); however, most of the previous reports with either neuropathy or myopathy caused by a heterozygous POLG mutation have been reported in older subjects (Milone and Massie, 2010;Wong et al, 2008).…”
Section: Discussionmentioning
confidence: 98%
“…It is caused by mutations in the catalytic subunit of the mitochondrial DNA (mtDNA) polymerase γ gene ( POLG ). POLG dominant and recessive mutations can also lead to distal myopathy, predominantly affecting upper limb muscles, and characterized by histological signs of mitochondrial dysfunction (ragged‐red, ragged‐blue, and/or cytochrome c oxidase‐negative fibers) and muscle mtDNA depletion or deletions …”
Section: Distal Metabolic Myopathies and Othersmentioning
confidence: 99%
“…Many features of MM are uncommon, or recently described (such as distal myopathy from certain POLG mutations (17)). These ill-defined syndromes may have a novel or unique molecular basis, or they may be due to mutations previously described to cause specific syndromes.…”
Section: Clinical Featuresmentioning
confidence: 99%