2020
DOI: 10.1136/practneurol-2019-002465
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Muscle biopsy: what and why and when?

Abstract: Skeletal muscle biopsy remains an important investigative tool in the diagnosis of a variety of muscle disorders. Traditionally, someone with a limb-girdle muscle weakness, myopathic changes on electrophysiology and raised serum creatine kinase (CK) would have a muscle biopsy. However, we are living through a genetics revolution, and so do all such patients still need a biopsy? When should we undertake a muscle biopsy in patients with a distal, scapuloperoneal or other patterns of muscle weakness? When should … Show more

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Cited by 27 publications
(19 citation statements)
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“…The proposed muscle-on-chip bioreactor ( figure 1 a , b ) consists of a central chamber with dimensions 5 mm × 5 mm × 2 mm filled with collagen type I hydrogel from Corning at 6 mg ml −1 embedded in PDMS with parallel tubes running through the device. Hollow tube geometry is relevant as in vivo skeletal muscle cells, also called myotubes at early stages of development, have elliptical or cylindrical shapes with diameters ranging from a few tens of microns up to hundreds of microns [ 11 ]. Tube geometry also mimics the shape of a blood vessel.…”
Section: Methodsmentioning
confidence: 99%
“…The proposed muscle-on-chip bioreactor ( figure 1 a , b ) consists of a central chamber with dimensions 5 mm × 5 mm × 2 mm filled with collagen type I hydrogel from Corning at 6 mg ml −1 embedded in PDMS with parallel tubes running through the device. Hollow tube geometry is relevant as in vivo skeletal muscle cells, also called myotubes at early stages of development, have elliptical or cylindrical shapes with diameters ranging from a few tens of microns up to hundreds of microns [ 11 ]. Tube geometry also mimics the shape of a blood vessel.…”
Section: Methodsmentioning
confidence: 99%
“…To sum up, our results suggested that with a careful, completed protocol, muscle biopsy provides high diagnostic value in precision diagnosis for clinically indistinguishable adult-onset myopathies [ 17 , 18 , 21 , 23 , 59 , 63 , 65 , 66 , 67 ]. This study analyzed the change of the latest IIMs subtypes before and after muscle biopsy.…”
Section: Discussionmentioning
confidence: 81%
“…Genetic analyses were introduced to a few cases whose muscle pathology indicated dystrophy even though no apparent family history was identified. Although muscle biopsy provides a precise guide for choosing the subsequent molecular tool in adult patients, early introduction of genetic tests before muscle biopsy may benefit pediatric patients regarding the risk of general anesthesia for biopsy [ 59 , 60 ].…”
Section: Discussionmentioning
confidence: 99%
“…Skeletal muscle biopsy remains an important investigative tool in the diagnosis of a variety of muscle disorders including sarcopenia. Muscle weakness, myopathic changes, and increased plasma creatine kinase (CK) that are caused by sarcopenia would be clinical indicators for muscle biopsy [ 70 ]. The target muscles to be biopsied are weak muscles that can overcome gravity.…”
Section: Musculoskeletal Tissue Biopsy Samples Are a Key Diagnostic Toolmentioning
confidence: 99%
“…Very weak muscles show a marked loss of muscle fibers with the replacement of adipose or connective tissue [ 7 ]. A closed biopsy is probably the most appropriate for determining muscle status in older adults with sarcopenia because it is minimally invasive and potentially yields more than one sample [ 70 ]. However, it is not without drawbacks because it is not easy to obtain from some muscles, it is expensive, it has a long processing time, it is impossible to tolerate throughout the aging process, the assessment of the heterogeneity of sarcopenia is limited to that of the biopsy analyzed, and it is not easy to follow the response to interventions in the elderly [ 28 ].…”
Section: Musculoskeletal Tissue Biopsy Samples Are a Key Diagnostic Toolmentioning
confidence: 99%