Myopathy with mitochondrial abnormalities and rimmed vacuoles

We report on 5 brothers with slowly progressive limbgirdle weakness. Calf hypertrophy was absent. The levels of creatine kinase, electromyography, and findings from a muscle biopsy specimen were compatible with muscular dystrophy. The propositus's biopsy specimen also showed numerous rimmed vacuoles. DNA analysis revealed a deletion in the dystrophin gene, establishing a diagnosis of Becker muscular dystrophy. Both the absence of calf hypertrophy and the presence of rimmed vacuoles are unusual features in this disorder.

show abstract

An unusual variant of Becker muscular dystrophy

Visser

Bakker

Defesche

et al. 1990

Annals of Neurology

View full text Add to dashboard Cite

show abstract

Intranuclear and cytoplasmic filamentous inclusions in distal myopathy (Welander)

1991

View full text Add to dashboard Cite

Ultrastructural examination of anterior tibial muscle from four patients with late-onset autosomal dominant distal myopathy of Welander-type revealed intrasarcoplasmic filamentous inclusions in association with rimmed vacuoles. In one of the patients, identical intranuclear filamentous inclusions were also found. These filamentous inclusions are similar to those described in inclusion body myositis (IBM). They have also been observed in hereditary neuromuscular disorders including autosomal recessive distal myopathy. Thus, the filamentous inclusions occur in different neuromuscular conditions with different etiologies. These findings further raise the question of the specificity of the filamentous inclusions in IBM.

show abstract

Quantitative morphometric study of muscle in inclusion body myositis

Verma

Bradley

Soule

et al. 1992

Journal of the Neurological Sciences

View full text Add to dashboard Cite

scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.

Contact Info

customersupport@researchsolutions.com

10624 S. Eastern Ave., Ste. A-614

Henderson, NV 89052, USA

Blog Terms and Conditions API Terms Privacy Policy Contact Cookie Preferences Do Not Sell or Share My Personal Information

Made with 💙 for researchers

Part of the Research Solutions Family.

Myopathy with mitochondrial abnormalities and rimmed vacuoles

Cited by 4 publications

References 16 publications

An unusual variant of Becker muscular dystrophy

An unusual variant of Becker muscular dystrophy

Intranuclear and cytoplasmic filamentous inclusions in distal myopathy (Welander)

Quantitative morphometric study of muscle in inclusion body myositis

Contact Info

Product

Resources

About