Tubular aggregate myopathy: a rare form of myopathy

Jain, Deepali ; Sharma, Mehar Chand ; Sarkar, Chitra ; Suri, Vaishali ; Sharma, Surinder Kumar ; Singh, Sumit ; Das, Taposh Kumar (2008) Tubular aggregate myopathy: a rare form of myopathy Journal of Clinical Neuroscience, 15 (11). pp. 1222-1226. ISSN 0967-5868

Full text not available from this repository.

Official URL: http://www.sciencedirect.com/science/article/pii/S...

Related URL: http://dx.doi.org/10.1016/j.jocn.2007.11.010

Abstract

Tubular aggregate myopathy (TAM) is a rare form of myopathy with an autosomal dominant or recessive pattern. Four rare cases of TAM are described. All patients presented with muscle aches and pains, sometimes cramps. Muscle biopsies were snap frozen and processed for routine, special, enzyme, and immunohistochemistry. Tissue was also processed for electron microscopy. Muscle biopsy revealed similar changes characterized by subsarcolemmal accumulation of granular material that stained red with modified Gomori trichrome stain, intense blue with nicotinamide adenine dinucleotide-tetrazolium reductase, but was non-reactive to succinyl dehydrogenase and cytochrome oxidase stains. Ultrastructural examination showed aggregates of hexagonal tubules in the subsarcolemmal region, which are pathognomonic of this entity. This report highlights the importance of histochemistry and electron microscopy for accurate diagnosis; otherwise TAM can be misdiagnosed on clinical grounds as a metabolic or mitochondrial myopathy.

Item Type:Article
Source:Copyright of this article belongs to Elsevier Science.
Keywords:Tubular Aggregate Myopathy; Electron Microscopy; Enzyme Histochemistry; Metabolic Myopathy; Mitochondrial Myopathy
ID Code:69369
Deposited On:10 Nov 2011 10:20
Last Modified:10 Nov 2011 10:20

Repository Staff Only: item control page