Muscle Biopsy showing Ragged-Red Fibers: Causes & Reasons

Possible Causes for Muscle Biopsy showing Ragged-Red Fibers

The muscle biopsy shows characteristic ragged red fibers; a brain biopsy shows stroke-like changes. [checkorphan.org]

Diagnostic laboratory findings include demonstration of lactic acidosis, brain imaging during stroke not conforming to the vascular territory, muscle biopsy showing ragged [orpha.net]

Muscle biopsies often show ragged, red fibers. The heart is commonly involved with both structural and rhythm defects. [disorders.eyes.arizona.edu]

MERRF Syndrome

Patients exhibit myoclonus epilepsy (involuntary muscle contractions) and show signs of ragged-red fibers in muscle biopsy. [mitochondrialdiseasenews.com]

biopsy showing the presence of ragged red fibers • Imaging studies such as CT or MRI • EEG results, vision or hearing testing may be helpful Suggested Listings for Evaluation [secure.ssa.gov]

Muscle biopsies showed many ragged-red fibers and abnormal mitochondria with concentric cristae. [ncbi.nlm.nih.gov]

Kearns-Sayre Syndrome

Muscle biopsy showed COX deficient and ragged red fibers. Courtesy of Dr. Dario Yacovino. [dizziness-and-balance.com]

biopsy showed also similarities (ragged-red fibers). [ispub.com]

The skeletal muscle biopsy demonstrated ragged red fibers, cytochrome C oxidase-negative and succinate dehydrogenase-positive fibers. [ncbi.nlm.nih.gov]

Mitochondrial Myopathy

Muscle biopsies showed ragged red fibers and dramatic mitochondrial abnormality. [ncbi.nlm.nih.gov]

The patient's clinical course is relatively mild and a muscle biopsy showed ragged red muscle fibers with a mild decrease in complexes I and an increase in complexes IV and [ncbi.nlm.nih.gov]

Muscle biopsies often show ragged, red fibers. The heart is commonly involved with both structural and rhythm defects. [disorders.eyes.arizona.edu]

Autosomal Dominant Progressive External Ophthalmoplegia Type 6

Cellular phenotype and pathology Skeletal muscle biopsy shows ragged red fibers, mtDNA depletion, and accumulation of abnormal mitochondria (summary by Echaniz-Laguna et al [flybase.org]

All patients' muscle biopsies showed ragged red fibers (RRFs) and cytochrome oxidase (COX) deficiency. [link.springer.com]

At age 46, a muscle biopsy showed ragged red fibers and a mitochondrial DNA deletion. Family History: A muscle biopsy in her mother and in her daughter were normal. [collections.lib.utah.edu]

Mitochondrial DNA Depletion Syndrome

Skeletal muscle biopsy shows ragged red fibers, mtDNA depletion, and accumulation of abnormal mitochondria. [uniprot.org]

Cellular phenotype and pathology Skeletal muscle biopsy shows ragged red fibers, mtDNA depletion, and accumulation of abnormal mitochondria (summary by Echaniz-Laguna et al [flybase.org]

Muscle biopsy showed 40% to 60% ragged-red cytochrome c oxidase negative fibers. All affected siblings had decreased activity of respiratory chain complexes. [pediatricneurologybriefs.com]

Chronic Progressive External Ophthalmoplegia

Muscle biopsy shows ragged red fibers with abnormal aggregates of subsarcolemmal mitochondria. If present it may be managed with a pacemaker. [mussenhealth.us]

The first muscle biopsy showed red-ragged fibers and cytochrome c oxidase negative fibers as well as inflammatory cells infiltration. [ncbi.nlm.nih.gov]

A muscle biopsy showed the presence of abundant ragged red fibers. [ncbi.nlm.nih.gov]

Lethal Infantile Mitochondrial Myopathy

CSF shows elevated protein and lactate. Muscle biopsy shows ragged red fibers. [slideplayer.com]

The muscle biopsy revealed ragged red fibers and pleomorphic mitochondria. [clinchem.aaccjnls.org]

CSF shows elevated protein and lactate. Muscle biopsy shows ragged red fibers. Diagnosis? [slideplayer.com]

Proximal Myopathy with Focal Depletion of Mitochondria

Muscle biopsies showed ragged-red fibers and decreased respiratory chain activity. [n.neurology.org]

A muscle biopsy sample (Figure 3) showed myopathic changes with sarcolemma aggregates and ragged‐red fibers. [onlinelibrary.wiley.com]

Muscle biopsies from 41 patients, including two in our seven patients, showed characteristic findings of myonecrosis, ragged red fibers, cytochrome-c-oxidase-negative fibers [synapse.koreamed.org]

Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome

Muscle biopsy showed ragged-red fibers and molecular genetic study showed a point mutation of the mitochondrial A3243G gene. [ncbi.nlm.nih.gov]

Muscle biopsies often show ragged, red fibers. The heart is commonly involved with both structural and rhythm defects. [disorders.eyes.arizona.edu]

The muscle biopsy shows characteristic ragged red fibers; a brain biopsy shows stroke-like changes. When do people with MELAS develop symptoms? [medicinenet.com]

Autosomal Recessive Progressive External Ophthalmoplegia

Muscle biopsy shows ragged red fibers with abnormal aggregates of subsarcolemmal mitochondria. If present it may be managed with a pacemaker. [centrallakesclinic.biz]

Muscle biopsy shows ragged-red fibers with multiple mitochondrial deletions. [disorders.eyes.arizona.edu]

Results: The muscle biopsy from an affected member showed ragged red fibers, increased succinic dehydrogenase staining, lack of cytochrome oxidase activity, and multiple deletions [neurology.org]

Autosomal Dominant Progressive External Ophthalmoplegia Type 1

Muscle biopsy shows ragged red fibers with abnormal aggregates of subsarcolemmal mitochondria. If present it may be managed with a pacemaker. [centrallakesclinic.biz]

RESULTS: The muscle biopsy from an affected member showed ragged red fibers, increased succinic dehydrogenase staining, lack of cytochrome oxidase activity, and multiple deletions [ncbi.nlm.nih.gov]

Muscle biopsy and mtDNA rearrangement analysis was used to confirm the diagnosis. Genomewide linkage analysis was set up using a set of 391 microsatellite markers. [ncbi.nlm.nih.gov]

Senior-Løken Syndrome Type 7

Muscle biopsy showed ragged red fibers on trichrome staining. She had right bundle branch block. These findings along with the history were suggestive of KSS. [journals.lww.com]

She underwent multi-disciplinary consultation with the cardiologist, neuro-psychiatrist, and endocrinologist and underwent muscle biopsy and genetic analysis. [journals.lww.com]

Cardiomyopathy - Cataract - Hip Spine Disease

Skeletal muscle biopsies show ragged-red fibers with combined deficiencies of mitochondrial complexes I, III, and IV along with severe depletion of mtDNA. [disorders.eyes.arizona.edu]

Myopathy involves both cardiac and skeletal muscles. [disorders.eyes.arizona.edu]

Mitochondrial Myopathy with Reversible Cytochrome C Oxidase Deficiency

Results from a muscle biopsy specimen obtained at age 41/2 months showed ragged-red fibers and increased glycogen and lipid droplets. [jamanetwork.com]

Results from a muscle biopsy specimen obtained at age 4 1/2 months showed ragged-red fibers and increased glycogen and lipid droplets. [unboundmedicine.com]

Muscle biopsy showed variation in fiber size, and numerous ragged-red fibers that were COX negative. [pediatricneurologybriefs.com]

Thymidine Kinase 2 Deficiency

Cellular phenotype and pathology Skeletal muscle biopsy shows ragged red fibers, mtDNA depletion, and accumulation of abnormal mitochondria (summary by Echaniz-Laguna et al [flybase.org]

The muscle biopsy showed dystrophic features with ragged red fibers and numerous cytochrome c oxidase (COX)-negative fibers. qPCR analysis demonstrated depletion of mtDNA [gu.se]

Sengers Syndrome

Skeletal muscle biopsies show ragged-red fibers with combined deficiencies of mitochondrial complexes I, III, and IV along with severe depletion of mtDNA. [disorders.eyes.arizona.edu]

A muscle biopsy showed diffuse complex-IV deficiency with numerous ragged-red fibers. Two younger siblings, a girl and a boy, are alive and well. [ncbi.nlm.nih.gov]

Abnormal muscle fibers were found with histiocytic infiltrates. Special stains did not show ragged red fibers nor storage cells. [ojrd.biomedcentral.com]

Mitochondrial Phosphate Carrier Deficiency

Skeletal muscle biopsies show ragged-red fibers with combined deficiencies of mitochondrial complexes I, III, and IV along with severe depletion of mtDNA. [disorders.eyes.arizona.edu]

ragged red fibers. [anesthesiology.pubs.asahq.org]

Myopathy involves both cardiac and skeletal muscles. [disorders.eyes.arizona.edu]

Mitochondrial DNA Depletion Syndrome Type 3 Hepatocerebral

Cellular phenotype and pathology Skeletal muscle biopsy shows ragged red fibers, mtDNA depletion, and accumulation of abnormal mitochondria (summary by Echaniz-Laguna et al [flybase.org]

Mitochondrial Myopathy

the muscle tissue of patients with these diseases usually demonstrate "ragged red" muscle fibers. [en.wikipedia.org]

However, the result of muscle biopsy performed to confirm our diagnosis showed ragged red fibers in modified Gomori trichrome stain and swollen mitochondria with parking lot [ommegaonline.org]

Muscle biopsy from the rectus femoris muscle showed no evidence of ragged red fibers with the modified Gomori trichrome stain. [anesthesiology.pubs.asahq.org]

Mitochondrial DNA Depletion Syndrome Type 4B

All of them had muscle biopsy showing ragged red fibers and cytochrome c oxidase negative fibers. Multiple deletions of mtDNA were detected by Southern blotting. [neurology.org]

Muscle biopsy shows ragged red fibers and there are multiple mitochondrial DNA deletions, suggesting defects of nuclear control of mitochondrial DNA reproduction. [neuroophthalmology.ca]

EM of the deltoid muscle biopsy showed one ragged red fiber (RRF), a few cytochrome oxydase (COX) negative fibers and moderate lipid storage in type 2 fibers with no mitochondrial [em-consulte.com]

Autosomal Dominant Progressive External Ophthalmoplegia Type 3

Muscle biopsy shows ragged red fibers and there are multiple mitochondrial DNA deletions, suggesting defects of nuclear control of mitochondrial DNA reproduction. [neuroophthalmology.ca]

Muscle biopsies from limb muscles show the characteristic ragged red appearance of myopathy in a minority of fibers. [disorders.eyes.arizona.edu]

In these patients, histological studies on muscle biopsy usually reveal the presence of fibers not reacting to cytochrome c oxidase staining (COX-negative fibers) or showing [mdpi.com]

Severe X-linked Mitochondrial Encephalomyopathy

The muscle biopsy shows characteristic ragged red fibers; a brain biopsy shows stroke-like changes. When do people with MELAS develop symptoms? [medicinenet.com]

Muscle biopsy shows ragged red fibers and there are multiple mitochondrial DNA deletions, suggesting defects of nuclear control of mitochondrial DNA reproduction. [neuroophthalmology.ca]

However, confirmation of the diagnosis usually requires a muscle or brain biopsy. [medicinenet.com]

Biventricular Hypertrophy

Skeletal muscle biopsy histology showed predominantly ragged red fibers and few ragged blue fibers, which was consistent with mitochondrial myopathy. [ncbi.nlm.nih.gov]

Dilated Cardiomyopathy Type 1J

Muscle biopsy showed 8% ragged red fibers, mostly cyclooxygenase-positive ( Figure ), and the genetic study again revealed the m.3243A>G mutation in MT-TL1, with 87% to 91% [revespcardiol.org]

Skeletal muscle biopsies show ragged-red fibers with combined deficiencies of mitochondrial complexes I, III, and IV along with severe depletion of mtDNA. [disorders.eyes.arizona.edu]

[…] heteroplasmy in the muscle biopsy. [revespcardiol.org]

Hereditary Myopathy with Lactic Acidosis due to ISCU Deficiency

Muscle biopsy showed mitochondrial myopathy with ragged-red fibers in all but one patient. 7 The ragged-red fibers stained intensely for cytochrome c oxidase, in contrast [nejm.org]

(a) Modified Gomori trichrome stain showing several ragged red fibers (arrowhead). [en.wikipedia.org]

In all five patients, histochemical analysis of muscle-biopsy specimens showed abundant ragged-red fibers, which stained intensely with both succinate dehydrogenase and cytochrome [nejm.org]

Mitochondrial Neurogastrointestinal Encephalomyopathy

Cellular phenotype and pathology Skeletal muscle biopsy shows ragged red fibers, mtDNA depletion, and accumulation of abnormal mitochondria (summary by Echaniz-Laguna et al [flybase.org]

In these patients, histological studies on muscle biopsy usually reveal the presence of fibers not reacting to cytochrome c oxidase staining (COX-negative fibers) or showing [mdpi.com]

[…] signs of compensatory mitochondrial proliferation (ragged-red fibers) [ 4 ]. [mdpi.com]

Hyperalaninemia

Abnormal skeletal muscle biopsies showed "ragged-red" fibers or congenital fiber type disproportion; serum alanine levels were elevated; in-vivo and in-vitro tests of pyruvate [annals.org]

Muscular Dystrophy-Dystroglycanopathy Type C14

A muscle biopsy will show ragged-red fibers which contain accumulations of glycogen and neutral lipids. [lecturio.com]

Limb-Girdle Muscular Dystrophy Type 1E

A muscle biopsy will show ragged-red fibers which contain accumulations of glycogen and neutral lipids. [lecturio.com]