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Topic:Diagnosis

Diagnosis in horses involves the systematic identification of diseases and conditions affecting equine health. This process relies on a combination of clinical evaluations, laboratory tests, imaging techniques, and other diagnostic tools to assess the health status of horses. Veterinarians utilize these methods to identify symptoms, determine the underlying causes of health issues, and formulate appropriate treatment plans. Diagnostic procedures in equine medicine can include blood tests, ultrasound, radiography, endoscopy, and more specialized tests such as genetic screening or advanced imaging modalities like MRI and CT scans. This page aggregates peer-reviewed research studies and scholarly articles that explore various diagnostic techniques, their applications, and advancements in the field of equine veterinary medicine.
Identification of copy number variations in three Chinese horse breeds using 70K single nucleotide polymorphism BeadChip array.
Animal genetics    July 21, 2016   Volume 47, Issue 5 560-569 doi: 10.1111/age.12451
Kader A, Liu X, Dong K, Song S, Pan J, Yang M, Chen X, He X, Jiang L, Ma Y.Copy number variation (CNV), an essential form of genetic variation, has been increasingly recognized as one promising genetic marker in the analysis of animal genomes. Here, we used the Equine 70K single nucleotide polymorphism genotyping array for the genome-wide detection of CNVs in 96 horses from three diverse Chinese breeds: Debao pony (DB), Mongolian horse (MG) and Yili horse (YL). A total of 287 CNVs were determined and merged into 122 CNV regions (CNVRs) ranging from 199 bp to 2344 kb in size and distributed in a heterogeneous manner on chromosomes. These CNVRs were integrated with s...
Citrobacter freundii induced endocarditis in a yearling colt.
The Canadian veterinary journal = La revue veterinaire canadienne    July 20, 2016   Volume 57, Issue 7 767-770 
Guidi EE, Thomas A, Cadoré JL, Smith AB.Endocarditis is a rare pathology in horses and the clinical signs can be misleading. We describe the clinical, echocardiographic, and pathological features of Citrobacter freundii induced bacterial endocarditis in a horse. This bacterium has never been reported before as an agent of vegetative endocarditis in the horse. L’endocardite est une pathologie rare chez les chevaux et les signes cliniques peuvent être trompeurs. Nous décrivons les caractéristiques cliniques, échographiques et pathologiques d’une endocardite bactérienne induite par chez un cheval. Cette bactérie n’a jamai...
Equine motor neuron disease in 2 horses from Saskatchewan.
The Canadian veterinary journal = La revue veterinaire canadienne    July 20, 2016   Volume 57, Issue 7 771-776 
Husulak ML, Lohmann KL, Gabadage K, Wojnarowicz C, Marqués FJ.Two horses from Saskatchewan were presented with signs of sweating, muscle fasciculations, weight loss, and generalized weakness. The horses were diagnosed with equine motor neuron disease (EMND), by histological assessment of a spinal accessory nerve or sacrocaudalis dorsalis medialis muscle biopsy. This is the first report of EMND in western Canada. Maladie équine des motoneurones chez 2 chevaux de la Saskatchewan. Deux chevaux de la Saskatchewan ont été présentés avec des signes de sudation, de fibrillations musculaires, de perte de poids et de faiblesse généralisée. On a diagnostiq...
Evolution of in vitro antimicrobial resistance in an equine hospital over 3 decades.
The Canadian veterinary journal = La revue veterinaire canadienne    July 20, 2016   Volume 57, Issue 7 747-751 
Malo A, Cluzel C, Labrecque O, Beauchamp G, Lavoie JP, Leclere M.This study identified antimicrobial resistance patterns of commonly isolated bacteria at the Equine Hospital of the Université de Montréal between 2007 and 2013, and compared the results with the resistance patterns observed in tests performed in previous decades in the same hospital. A total of 396 antimicrobial susceptibility tests were analyzed by the Kirby-Bauer method during the period 2007 to 2013 and compared to 233 and 255 tests completed in 1986 to 1988 and 1996 to 1998, respectively. The most common bacteria were Streptococcus equi subsp. zooepidemicus (S. zooepidemicus) and Escher...
Clinical behavior of intraocular teratoid medulloepithelioma in two-related Quarter Horses.
Veterinary ophthalmology    July 20, 2016   Volume 20, Issue 6 551-559 doi: 10.1111/vop.12409
Monk CS, Craft WF, Abbott JR, Farina LL, Reuss SM, Czerwinski SL, Brooks DE, Plummer CE.The objective of this paper is to describe clinical behavior, histopathologic features, and immunohistochemical staining of two-related horses with intraocular teratoid medulloepithelioma. Two-related Quarter Horses with similar intraocular masses presented to the UF-CVM Comparative Ophthalmology Service for evaluation and treatment. The first horse, a 3-year-old gelding, had glaucoma and a cyst-like mass in the anterior chamber. Enucleation was performed. Histopathology revealed a teratoid medulloepithelioma. The tumor was considered to be completely excised. Fifteen months later, the gelding...
Ex Vivo Computed Tomographic Evaluation of Morphology Variations in Equine Cervical Vertebrae. Veraa S, Bergmann W, van den Belt AJ, Wijnberg I, Back W.Diagnostic imaging is one of the pillars in the clinical workup of horses with clinical signs of cervical spinal disease. An improved awareness of morphologic variations in equine cervical vertebrae would be helpful for interpreting findings. The aim of this anatomic study was to describe CT variations in left-right symmetry and morphology of the cervical and cervicothoracic vertebrae in a sample of horses. Postmortem CT examinations of the cervical spine for horses without congenital growth disorders were prospectively and retrospectively recruited. A total of 78 horses (27 foals, 51 mature h...
Electroretinographic changes after intravenous lipid emulsion therapy in a dog and a foal with ivermectin toxicosis.
Veterinary ophthalmology    July 20, 2016   Volume 21, Issue 1 82-87 doi: 10.1111/vop.12410
Pollio D, Michau TM, Weaver E, Kuebelbeck KL.This case report describes ivermectin-induced blindness in a dog and a foal with normal ophthalmic fundic examinations and attenuated electroretinography (ERG). Subsequent recovery in ERG was noted following intravenous lipid emulsion (ILE) therapy. A dog and a foal were evaluated for ivermectin-induced blindness. Clinical signs included dull mentation, absent pupillary light reflexes (PLRs), and absent menace on presentation. The animals had normal fundoscopic examinations; however, in both cases ERG was consistent with neurosensory retinal dysfunction. Following ILE therapy for ivermectin to...
High resolution imaging of the equine cornea using the DUB®-SkinScanner v3.9.
Tierarztliche Praxis. Ausgabe G, Grosstiere/Nutztiere    July 19, 2016   Volume 44, Issue 6 360-367 doi: 10.15653/TPG-160344
Herbig LE, Köhler L, Eule JC.The aim was to describe the use of the DUB®-SkinScanner v3.9 (taberna pro medicum GmbH, Lueneburg, Germany) for the examination of the equine cornea. Methods: Using the DUB®-SkinScanner v3.9 various pathological corneal conditions were pictured in the A- and B-mode at a frequency of 22 and/or 50 MHz in nine eyes of eight horses. Scans were obtained from standing horses or from horses under general anesthesia non-related to image acquisition. Results: The examination allowed real time imaging and measurement of the equine cornea in vivo. Compared to slit-lamp biomicroscopy additional informa...
Genetic testing in veterinary dermatology.
Veterinary dermatology    July 18, 2016   Volume 28, Issue 1 4-e1 doi: 10.1111/vde.12309
Leeb T, Müller EJ, Roosje P, Welle M.Molecular genetics has made significant advances in the analysis of hereditary dermatoses during the last several years. Objective: To provide an update on currently available genetic tests for skin diseases of dogs, cats and horses, and to aid the veterinary clinician in the appropriate selection and applications of genetic tests. Methods: The scientific literature on the topic was critically reviewed. The list of known causative variants for genodermatoses and hair morphology traits was compiled by searching the Online Mendelian Inheritance in Animals (OMIA) database. Results: Genetic testin...
Prevalence and antimicrobial susceptibility of bacterial isolates from horses with synovial sepsis: A cross-sectional study of 95 cases.
Veterinary journal (London, England : 1997)    July 16, 2016   Volume 216 117-121 doi: 10.1016/j.tvjl.2016.07.004
Robinson CS, Timofte D, Singer ER, Rimmington L, Rubio-Martínez LM.Bacterial culture and antimicrobial susceptibility testing of septic synovial samples allows instigation of targeted antimicrobial therapy; however, bacterial culture takes more than 24 h and has low sensitivity. This study aimed to identify the most frequently cultured bacteria and their antimicrobial susceptibility profile from septic synovial samples in our referral equine hospital, to allow recommendations regarding appropriate initial antimicrobial therapy prior to culture results. Hospital records for all horses with synovial sepsis and a synovial sample submitted to the microbiology l...
Candidate gene analysis of osteochondrosis in Spanish Purebred horses.
Animal genetics    July 16, 2016   Volume 47, Issue 5 570-578 doi: 10.1111/age.12453
Sevane N, Dunner S, Boado A, Cañon J.Equine osteochondrosis (OC) is a frequent developmental orthopaedic disease with high economic impact on the equine industry and may lead to premature retirement of the animal as a result of chronic pain and lameness. The genetic background of OC includes different genes affecting several locations; however, these genetic associations have been tested in only one or few populations, lacking the validation in others. The aim of this study was to identify the genetic determinants of OC in the Spanish Purebred horse breed. For that purpose, we used a candidate gene approach to study the associati...
Prevalence of netF-positive Clostridium perfringens in foals in southwestern Ontario.
Canadian journal of veterinary research = Revue canadienne de recherche veterinaire    July 14, 2016   Volume 80, Issue 3 242-244 doi: 10.1371/journal.pone.0122684
Finley A, Gohari IM, Parreira VR, Abrahams M, Staempfli HR, Prescott JF.NetF-producing Clostridium perfringens have recently been identified as a cause of necrotizing enteritis in neonatal foals, but little is known about its prevalence in clinically normal foals. Foals (n = 88) ranging in age from < 1 wk to 2 to 4 mo (median age 2 to 4 wk) on 8 horse-breeding farms in Ontario were examined on 1 or 2 occasions for the presence of C. perfringens. Of the foals that tested positive, 5 isolates (n = 675) were examined for the netF and enterotoxin (cpe) genes. Colonization by C. perfringens was most marked in foals < 1 wk of age [4.85 ± 2.70 log10 colony-forming...
Interaction of Trypanosoma evansi with the plasminogen-plasmin system.
Veterinary parasitology    July 14, 2016   Volume 226 189-197 doi: 10.1016/j.vetpar.2016.07.016
Acosta H, Rondón-Mercado R, Avilán L, Concepción JL.Trypanosoma evansi is a widely-distributed haemoflagellated parasite of veterinary importance that infects a variety of mammals including horses, mules, camels, buffalos, cattle and deer. It is the causal agent of a trypanosomiasis known as Surra which produces epidemics of great economic importance in Africa, Asia and South America. The main pathology includes an enlarged spleen with hypertrophy of lymphoid follicles, congested lungs, neuronal degeneration and meningoencephalitis, where migration of the parasites from the blood to the tissues is essential. Most cells, including pathogenic cel...
Factors associated with equine aural plaque in Brazil.
Veterinary dermatology    July 14, 2016   Volume 27, Issue 5 408-e104 doi: 10.1111/vde.12360
Mira J, Herman M, Zakia LS, Olivo G, Araujo JP, Borges AS, Oliveira-Filho JP.Aural plaques can be found on the inner surfaces of one or both ears of horses. Despite their low malignancy, these lesions can sometimes cause discomfort and sensitivity in horses, and a loss in commercial value due to their aesthetic effect. There has been a study describing the epidemiological features and the clinical prevalence of equine aural plaques in Brazil. Objective: To determine the clinical prevalence and selected associated factors of aural plaques. Methods: In the study, 891 horses were assessed for aural plaques. The sample group had a median age of 5 years and comprised both s...
Relationship of skeletal muscle inflammation with obesity and obesity-associated hyperinsulinemia in horses. Banse HE, Holbrook TC, Frank N, McFarlane D.Local (skeletal muscle and adipose) and systemic inflammation are implicated in the development of obesity-associated insulin resistance in humans. In horses, obesity is neither strongly nor consistently associated with systemic inflammation. The role of skeletal muscle inflammation in the development of insulin dysregulation (insulin resistance or hyperinsulinemia) remains to be determined. We hypothesized that skeletal muscle inflammation is related to obesity-associated hyperinsulinemia in horses. Thirty-five light-breed horses with body condition scores (BCSs) of 3/9 to 9/9 were studied, i...
Regulation of Rev expression by the equine infectious anaemia virus tat-rev mRNA Kozak sequence and its potential influence on viral replication.
The Journal of general virology    July 13, 2016   Volume 97, Issue 9 2421-2426 doi: 10.1099/jgv.0.000548
Ma J, Zhang Z, Yao Q, Su C, Yin X, Wang X.Rev, an important accessory protein of equine infectious anaemia virus (EIAV), induces the nuclear export of incompletely spliced viral mRNAs. Rev is translated from the tat-rev mRNA through leaky scanning of the tat CUG. In this study, the function of the Kozak sequence at the beginning of the rev ORF was investigated. Deletion or attenuation of the Kozak sequence resulted in expression of an N-terminal 11  aa-truncated Rev in addition to WT Rev. Truncated Rev displayed weaker promotion of Gag expression and processing than WT Rev. Furthermore, EIAV rescued from an infectious molecular clon...
Ehrlichia sp. infection in carthorses of low-income owners, Southern Brazil.
Comparative immunology, microbiology and infectious diseases    July 12, 2016   Volume 48 1-5 doi: 10.1016/j.cimid.2016.07.002
Vieira TS, Vieira RF, Krawczak FS, Soares HS, Guimarães AM, Barros-Filho IR, Marcondes M, Labruna MB, Biondo AW, Vidotto O.Although well established in dogs, Ehrlichia sp. infection has been scarcely reported in horses. The aim was to perform a comprehensive serological and molecular survey for the detection of Ehrlichia spp. in carthorses from Southern Brazil. Blood samples from 190 carthorses from Paraná State were sampled. Horses were also tested for Borrelia burgdorferi and Anaplasma phagocytophilum. Anti-Ehrlichia sp. antibodies were detected by a commercial rapid ELISA, and immunofluorescence antibody assays (IFA) with E. chaffeensis and E. canis as crude antigens. The molecular and phylogenetic analysis of...
Gingival Toll-like receptor and cytokine messenger RNA levels in equine periodontitis and oral health.
Equine veterinary journal    July 12, 2016   Volume 49, Issue 3 294-299 doi: 10.1111/evj.12597
Kennedy R, Lappin DF, Dixon PM, Bennett D, Riggio MP.Equine periodontitis is a common and painful condition. However, the disease often goes unnoticed by owners and is thus a major welfare concern. The aetiopathogenesis of the condition remains poorly understood and has been investigated in few studies. The innate immune system is known to play an important role in human periodontitis, but its role in equine periodontitis has not been examined. Objective: To quantify the messenger (m)RNA levels of Toll-like receptors (TLRs) and cytokines in gingival tissue from orally healthy horses and those affected by periodontitis. Methods: Observational stu...
Clinical course of sarcoids in 61 Franches-Montagnes horses over a 5-7 year period.
The veterinary quarterly    July 11, 2016   Volume 36, Issue 4 189-196 doi: 10.1080/01652176.2016.1204483
Berruex F, Gerber V, Wohlfender FD, Burger D, Koch C.The progression of equine sarcoids (ES) is notoriously unpredictable. Making a choice for the appropriate treatment is challenging when dealing with milder manifestations of ES. Objective: The aim of this study was to investigate the clinical course of ES in young horses. Methods: A cohort of 61 ES-affected three-year-old Franches-Montagnes horses and a breed-, age- and geographically matched control group of 75 ES-free peers were examined twice over a period of 5-7 years. Owners and caretakers were queried, using a standardized questionnaire. Results: More than half of the 38/61 (62%) horses...
Pythiosis in the Nasal Cavity of Horses.
Journal of comparative pathology    July 9, 2016   Volume 155, Issue 2-3 126-129 doi: 10.1016/j.jcpa.2016.06.005
Souto EPF, Maia LA, Olinda RG, Galiza GJN, Kommers GD, Miranda-Neto EG, Dantas AFM, Riet-Correa F.Two cases of nasal pythiosis are reported in horses from the semi-arid region of northeastern Brazil. From January 1986 to December 2015, the Laboratory of Animal Pathology, Federal University of Campina Grande received 830 equine samples, 156 (18.79%) of which were diagnosed with pythiosis. Of these, two horses (1.28%), a male and a female adult cross-breed, had lesions in the nasal cavity. Both horses had access to water reservoirs. Clinically, they had swelling in the rhinofacial region and a serosanguineous nasal discharge. Macroscopically, in case 1, the lesion affected the nasal vestibul...
A case of giant cell tumor of soft parts in a horse.
Veterinary clinical pathology    July 8, 2016   Volume 45, Issue 3 501-504 doi: 10.1111/vcp.12377
Cian F, Whiteoak S, Stewart J.A 12-year-old British Warmblood mare was examined by the referring veterinarian for evaluation of a cutaneous lesion on the dorsal thorax to the right of the midline. Cytologic examination of fine-needle aspirates from the mass was supportive of a giant cell tumor of soft parts (GCTSP). Laser surgical excision and postoperative methyl aminolevulinate (MAL) photodynamic therapy (PDT) were performed. Histologic examination of the mass confirmed the cytologic diagnosis. At 8 months from surgery, no evidence of recurrence has been observed. Giant cell tumors of soft parts are rare cutaneous neopla...
Large Deletions at the SHOX Locus in the Pseudoautosomal Region Are Associated with Skeletal Atavism in Shetland Ponies.
G3 (Bethesda, Md.)    July 7, 2016   Volume 6, Issue 7 2213-2223 doi: 10.1534/g3.116.029645
Rafati N, Andersson LS, Mikko S, Feng C, Raudsepp T, Pettersson J, Janecka J, Wattle O, Ameur A, Thyreen G, Eberth J, Huddleston J, Malig M, Bailey E....Skeletal atavism in Shetland ponies is a heritable disorder characterized by abnormal growth of the ulna and fibula that extend the carpal and tarsal joints, respectively. This causes abnormal skeletal structure and impaired movements, and affected foals are usually killed. In order to identify the causal mutation we subjected six confirmed Swedish cases and a DNA pool consisting of 21 control individuals to whole genome resequencing. We screened for polymorphisms where the cases and the control pool were fixed for opposite alleles and observed this signature for only 25 SNPs, most of which we...
Prototheca species and Pithomyces chartarum as Causative Agents of Rhinitis and/or Sinusitis in Horses.
Journal of comparative pathology    July 6, 2016   Volume 155, Issue 2-3 121-125 doi: 10.1016/j.jcpa.2016.06.004
Schöniger S, Roschanski N, Rösler U, Vidovic A, Nowak M, Dietz O, Wittenbrink MM, Schoon HA.Pyogranulomatous rhinitis associated with an algal infection was diagnosed in a 25-year-old gelding and a 23-year-old mare had necrotizing sinusitis with intralesional algae and pigmented fungi. Algae were identified immunohistochemically in both cases as Prototheca spp. In the gelding, further characterization by polymerase chain reaction and sequencing revealed that the organism was Prototheca zopfii genotype 2. Fungi from the mare were identified as Pithomyces chartarum by molecular analysis. Prototheca species are achlorophyllous algae and P. chartarum represents a dematiaceous fungus; the...
Acute-phase proteins as diagnostic markers in horses with colic.
Journal of veterinary emergency and critical care (San Antonio, Tex. : 2001)    July 6, 2016   Volume 26, Issue 5 664-674 doi: 10.1111/vec.12504
Pihl TH, Scheepers E, Sanz M, Goddard A, Page P, Toft N, Kjelgaard-Hansen M, Andersen PH, Jacobsen S.To investigate the diagnostic potential of the concentrations of acute-phase proteins serum amyloid A (SAA), haptoglobin (Hp), and fibrinogen in blood and peritoneal fluid (PF) for differentiating horses with inflammatory colic (entero-colitis and peritonitis) from those with surgical colic. Methods: Prospective observational multicenter study. Methods: Two university referral hospitals. Methods: Horses referred for severe acute abdominal pain to Hospital 1 (n = 148) or Hospital 2 (n = 78). Methods: Blood and PF samples collected at admission were used for acute-phase protein concentration...
A retrospective review of hyperaesthetic leucotrichia in horses in the USA.
Veterinary dermatology    July 5, 2016   Volume 27, Issue 4 294-e72 doi: 10.1111/vde.12327
Goodale EC, White SD, Outerbridge CA, Everett AD, Affolter VK.Hyperaesthetic leucotrichia (HL) rarely affects horses and causes painful lesions on the dorsum that result in leucotrichia. This may be a variant of erythema multiforme (EM), but there are no studies investigating this condition. Objective: Describe the clinical and histological features of HL and compare them to the histological features of EM. Methods: A retrospective review of medical records from 1985 to 2015 identified 15 horses with HL. Thirteen biopsies of HL and five of EM were evaluated and compared. Results: Arabian horses and their crosses (χ(2) (1)  = 8.56, P < 0.01) and A...
A novel equine-derived pericardium membrane for dural repair: A preliminary, short-term investigation.
Asian journal of neurosurgery    July 2, 2016   Volume 11, Issue 3 201-205 doi: 10.4103/1793-5482.179645
Centonze R, Agostini E, Massaccesi S, Toninelli S, Morabito L.A large variety of biological and artificial materials are employed in dural repair, each of them with major limitations. Autologous grafts have limited availability and require an additional incision and surgical time. Cadaveric preparations and heterologous materials entail the risk of iatrogenic transmission of prions, whereas synthetic substitutes have been reported to cause inflammatory reactions and graft rejection. An equine-derived pericardium membrane has been developed (Heart(®), Bioteck, Vicenza, Italy) with mechanical and safety-related features that could make it suitable for neu...
Mineralization of the Equine Palmar/Plantar Annular Ligament Treated by Surgical Resection.
Veterinary surgery : VS    July 1, 2016   Volume 45, Issue 5 602-608 doi: 10.1111/vsu.12503
Garvican ER, Wylie CE, Payne RJ, Smith RK, Head MJ.To document the clinical presentation, diagnosis, and surgical treatment of mineralization of the equine palmar/plantar annular ligament (PAL). Methods: Retrospective study. Methods: Ponies (n=7). Methods: Case records from 2 referral hospitals were examined to identify cases with lameness associated with PAL mineralization treated surgically. Follow-up information was obtained from the owners by telephone questionnaire. Results: Duration of lameness before referral ranged from 5 weeks to 6 months, and degree of lameness from grade 1 to 5 out of 10. In 3 cases, records noted obvious pain when ...
Twenty years of Hendra virus: laboratory submission trends and risk factors for infection in horses.
Epidemiology and infection    June 30, 2016   Volume 144, Issue 15 3176-3183 doi: 10.1017/S0950268816001400
Smith CS, McLAUGHLIN A, Field HE, Edson D, Mayer D, Ossedryver S, Barrett J, Waltisbuhl D.Hendra virus (HeV) was first described in 1994 in an outbreak of acute and highly lethal disease in horses and humans in Australia. Equine cases continue to be diagnosed periodically, yet the predisposing factors for infection remain unclear. We undertook an analysis of equine submissions tested for HeV by the Queensland government veterinary reference laboratory over a 20-year period to identify and investigate any patterns. We found a marked increase in testing from July 2008, primarily reflecting a broadening of the HeV clinical case definition. Peaks in submissions for testing, and visitat...
Evaluation of diagnostic methods in equine endometritis.
Reproductive biology    June 29, 2016   Volume 16, Issue 3 189-196 doi: 10.1016/j.repbio.2016.06.002
Katila T.This review suggests a classification for uterine diseases of mares. Information is presented on the prevalence of endometritis in the past and at present. The review describes uterine sampling techniques for mares: swabbing, cytobrushing, low volume lavage and biopsy. The performance of culture, cytology and histology and threshold values is discussed. Correlations between different diagnostic methods and fertility are presented, as well as specificities, sensitivities and positive and negative predictive values of the diagnostic methods. The necessity for double-guarded techniques is emphasi...
Mitochondrial function is altered in horse atypical myopathy.
Mitochondrion    June 29, 2016   Volume 30 35-41 doi: 10.1016/j.mito.2016.06.005
Lemieux H, Boemer F, van Galen G, Serteyn D, Amory H, Baise E, Cassart D, van Loon G, Marcillaud-Pitel C, Votion DM.Equine atypical myopathy in Europe is a fatal rhabdomyolysis syndrome that results from the ingestion of hypoglycin A contained in seeds and seedlings of Acer pseudoplatanus (sycamore maple). Acylcarnitine concentrations in serum and muscle OXPHOS capacity were determined in 15 atypical myopathy cases. All but one acylcarnitine were out of reference range and mitochondrial respiratory capacity was severely decreased up to 49% as compared to 10 healthy controls. The hallmark of atypical myopathy thus consists of a severe alteration in the energy metabolism including a severe impairment in muscl...