Congenital Myopathy with Cytoplasmic Bodies

Overview

Journal Neuropediatrics

Specialty Pediatrics

Date 1981 May 1

PMID 6267501

Citations 5

Authors

H H Goebel

H Schloon

H G Lenard

Affiliations

Soon will be listed here.

Abstract

Since early infancy, a 15-year-old girl had suffered from an apparently static neuromuscular disorder that chiefly afflicted her proximal muscles but did not spare her distal ones. Her CPK values had repeatedly been mildly elevated and her electromyogram had been considered "myopathic". There were no similar neuromuscular disorders in the family. Quadriceps muscle biopsy showed a type I myofiber predominance of 96%, this girl's muscle disease represented "congenital myopathy with cytoplasmic bodies" as cytoplasmic bodies were recently reported in other sporadic and hereditary neuromuscular disorders of unknown origin.

Citing Articles

Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods.

Donkervoort S, Chan S, Hayes L, Bradley N, Nguyen D, Leach M Neuromuscul Disord. 2017; 27(6):531-536.

PMID: 28416349 PMC: 5918412. DOI: 10.1016/j.nmd.2017.02.012.

Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture.

Feinstein-Linial M, Buvoli M, Buvoli A, Sadeh M, Dabby R, Straussberg R BMC Med Genet. 2016; 17(1):57.

PMID: 27519903 PMC: 4982306. DOI: 10.1186/s12881-016-0315-1.

[Congenital and other myopathies].

Goebel H, Muller H, Schroder R Pathologe. 2009; 30(5):365-9.

PMID: 19641920 DOI: 10.1007/s00292-009-1169-5.

The cytoplasmic bodies in a congenital myopathy can be stained with antibodies to desmin, the muscle-specific intermediate filament protein.

Osborn M, Goebel H Acta Neuropathol. 1983; 62(1-2):149-52.

PMID: 6318501 DOI: 10.1007/BF00684933.

Desmin and actin associated with cytoplasmic bodies in skeletal muscle fibers: immunocytochemical and fine structural studies, with a note on unusual 18- to 20-nm filaments.

Schroder J, Sommer C, Schmidt B Acta Neuropathol. 1990; 80(4):406-14.

PMID: 2173329 DOI: 10.1007/BF00307695.