Sentence examples for multiple muscle biopsies from inspiring English sources

This is particularly important considering an initial misdiagnosis rate of approximately 30 53%, a mean delay to diagnosis of 4.9 8 years [7, 17, 34] and, in many cases, the need for multiple muscle biopsies before it is possible to establish the correct diagnosis [20, 21, 35].

Vacuoles and congophilic intracellular inclusions were identified in cryostat sections of multiple muscle biopsies and immunostained with antibodies against amyloid-β peptide, amyloid-β precursor protein, and proteosome 20S of the ubiquitin proteosome system.

The presence of COX-deficient fibres and multiple mtDNA deletions in skeletal muscle biopsies is also very significant and further supports a link with mitochondrial dysfunction in a subgroup of patients with hereditary spastic paraplegia (McDermott et al., 2003).

The significance of these syndromal DOA variants was recently highlighted by the identification of cytochrome c oxidase (COX -deficient musCOX -deficient musclele mtDNA deletions in skeletal muscle biopsies fibreshese pandents, imultipleng a previously unsuspected role of OPA1 in mtDNA maintenance (Amati-Bonneau et al., 2008; Hudeletionsl., 2008; Zevinni, 2008).

Multiple mtDNA deletions were found in muscle biopsies from patients carrying the p.Ser59Leu mutation, and our data show that this is not due to disturbed mitochondrial dynamics as mitochondrial fusion is not inhibited in patient fibroblasts.

Furthermore, the intriguing finding of cytochrome c oxidase (COX -deficient fibres and multiple mitoCOX -deficientdeletions in skeletal muscle biopsies suggest that Mfibrestandons can result in disturbed multipledrial DNA mitochondrialnDNAn overt respiratory chain deletionsn addinion to marked fragmentation of the mitochondrial network.

Routine mitochondrial investigations identified multiple deletions of mtDNA in the skeletal muscle biopsies, explaining the observed mosaic cytochrome c oxidase defect (Yu‐Wai‐Man et al, 2010c).

Moreover, we examined multiple muscle types for gene expression by RT-PCR because the muscle chosen for patient muscle biopsies can be variable and the site of biopsy is unknown to us under the terms of our IRB protocol.