6533b835fe1ef96bd129f37a
RESEARCH PRODUCT
Spheroid body myopathy revisited
Daniel L. KollerJans MullerBiagio AzzarelliTatiana ForoudMartin R. FarlowGeorge ColeAnthony N. D'agostinoJacob WilsonHans H. Goebelsubject
Pathologymedicine.medical_specialtybiologyPhysiologySpheroidAnatomyCellular and Molecular NeuroscienceUbiquitinCrystallinPhysiology (medical)embryonic structuresmedicinebiology.proteinImmunohistochemistryDesminNeurology (clinical)medicine.symptomMyopathySpheroid body myopathydescription
Having reported spheroid body myopathy from Indiana (IN) inherited in an autosomal-dominant fashion several years ago, we now describe additional findings from the Oregon branch—briefly recorded earlier—and confirm earlier studies in another clinically affected IN member of this kinship demonstrating identical spheroid bodies within the myopathic muscle specimens. The spheroid bodies also contained increased amounts of desmin, α-B crystallin, and ubiquitin within muscle fibers. Our studies now have established that spheroid body myopathy is a member of the growing family of desminopathic neuromuscular conditions. © 1997 John Wiley & Sons, Inc. Muscle Nerve20:1127–1136, 1997
| year | journal | country | edition | language |
|---|---|---|---|---|
| 1997-09-01 | Muscle & Nerve |