ArticleActa neuropathologica2011
A new phenotype of mitochondrial disease characterized by familial late-onset predominant axial myopathy and encephalopathy.
Article in Acta neuropathologica, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 24 citations in OpenAlex.
- Tissue-specific mitochondrial DNA,Molecular genetics and metabolism reports · 2025Article
- Camptocormia and Other Orthopedic Compromise Dominating Mitochondrial Disorder: A Case Report.Cureus · 2020Article
- Camptocormia as a Novel Phenotype in a HeterozygousDiagnostics (Basel, Switzerland) · 2020Article
- Camptocormia and shuffling gait due to a novelNeurology. Genetics · 2017Article
- Pathophysiological Concepts and Treatment of Camptocormia.Journal of Parkinson's disease · 2016Review
- Camptocormia in Parkinson's disease: definition, epidemiology, pathogenesis and treatment modalities.Journal of neurology, neurosurgery, and psychiatry · 2016Review
- Clinical presentation of axial myopathy in two siblings with HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP).BMC neurology · 2015Article
- Axial mitochondrial myopathy in a patient with rapidly progressive adult-onset scoliosis.Acta neuropathologica communications · 2014Article
- No excess of mitochondrial DNA deletions within muscle in progressive multiple sclerosis.Multiple sclerosis (Houndmills, Basingstoke, England) · 2013Article
- Mitochondrial DNA deletions and depletion within paraspinal muscles.Neuropathology and applied neurobiology · 2013Article
- A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations.Mitochondrion · 2012Article
- Myofibrillar disorganization characterizes myopathy of camptocormia in Parkinson's disease.Acta neuropathologica · 2012Article
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Axial myopathy is a rare neuromuscular disease that is characterized by paraspinal muscle atrophy and abnormal posture, most notably camptocormia (also known as bent spine). The genetic cause of familial axial myopathy is unknown. Described here are the clinical features and cause of late-onset predominant axial myopathy and encephalopathy. A 73-year-old woman presented with a 10-year history of severe paraspinal muscle atrophy and cerebellar ataxia. Her 84-year-old sister also developed late-onset paraspinal muscle atrophy and generalized seizures with encephalopathy. Computed tomography showed severe atrophy and fatty degeneration of their paraspinal muscles. Their mother and maternal aunt also developed bent spines. The existence of many ragged-red fibers and cytochrome c oxidase-negative fibers in the biceps brachii muscle of the proband indicated a mitochondrial abnormality. No significant abnormalities were observed in the respiratory chain enzyme activities; however, the activities of complexes I and IV were relatively low compared with the activities of other complexes. Sequence analysis of the mitochondrial DNA from the muscle revealed a novel heteroplasmic mutation (m.602C>T) in the mitochondrial tRNA(Phe) gene. This familial case of late-onset predominant axial myopathy and encephalopathy may represent a new clinical phenotype of a mitochondrial disease.
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