Mixed Nemaline-mitochondrial "myopathy"

Overview

Journal Acta Neuropathol

Specialty Neurology

Date 1980 Jan 1

PMID 6255722

Citations 6

Authors

M Kornfeld

Affiliations

Soon will be listed here.

Abstract

A 4-year-old boy suffering from a nonprogressive muscular weakness had a muscle biopsy which ultrastructurally showed large aggregates of nemaline bodies and mitochondria in myofibers; occasional concentric lamellated bodies were present as well. The mitochondria were mostly at the periphery of collections of nemaline bodies, less commonly in their central portions. The light microscopic features differed from those of either nemaline or mitochondrial myopathy and were somewhat reminiscent of multicore disease. Evidence suggestive of possible neurogenic origin of both rods and mitochondria is reviewed.

Citing Articles

Aberrations in Energetic Metabolism and Stress-Related Pathways Contribute to Pathophysiology in the Neb Conditional Knockout Mouse Model of Nemaline Myopathy.

Slick R, Tinklenberg J, Sutton J, Zhang L, Meng H, Beatka M Am J Pathol. 2023; 193(10):1528-1547.

PMID: 37422147 PMC: 10548278. DOI: 10.1016/j.ajpath.2023.06.009.

Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings.

Agrawal P, Joshi M, Marinakis N, Schmitz-Abe K, Ciarlini P, Sargent J JAMA Neurol. 2014; 71(11):1413-20.

PMID: 25264603 PMC: 4227917. DOI: 10.1001/jamaneurol.2014.1432.

Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy.

North K, Laing N, Wallgren-Pettersson C J Med Genet. 1997; 34(9):705-13.

PMID: 9321754 PMC: 1051052. DOI: 10.1136/jmg.34.9.705.

Coexistence of minicores, cores, and rods in the same muscle biopsy. A new example of mixed congenital myopathy.

Vallat J, de Lumley L, Loubet A, Leboutet M, Corvisier N, Umdenstock R Acta Neuropathol. 1982; 58(3):229-32.

PMID: 7158301 DOI: 10.1007/BF00690806.

Adult-onset mixed myopathy with nemaline rods, minicores, and central cores: a muscle disorder mimicking polymyositis.

Seitz R, Toyka K, WECHSLER W J Neurol. 1984; 231(3):103-8.

PMID: 6481414 DOI: 10.1007/BF00313674.

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