{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T19:33:45Z","timestamp":1790278425598,"version":"4.1.0"},"reference-count":14,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[1995,8,31]],"date-time":"1995-08-31T00:00:00Z","timestamp":809827200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1996,11]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Gyrate atrophy of the choroid and retina with hyperornithinaemia (GA), an autosomal recessive disease, affects skeletal muscle in addition to the eye. Muscle biopsy samples show prominent type 2 muscle fibre atrophy. Atrophic fibres also contain accumulations of tubular aggregates in electron microscopy. To evaluate skeletal muscle involvement in detail, the thigh muscles of 7 patients with GA were examined using semi\u2010open conchotome muscle biopsies, computed tomography (CT) and ultralow\u2010field magnetic resonance imaging (MRI) at 0.02 T. In MRI, the T1 and T2 proton relaxation times were measured. Type 2 muscle fibre atrophy was found in all biopsy samples (100%) and tubular aggregates in 6 of the 7 samples studied (87%). The CT density of the muscle tissue was increased in the only child of the study, decreased in 3 elderly subjects, and normal in the remaining 3 patients. Mean T1 relaxation times of the patients were decreased (135\u00b15 ms) as compared to those of 6 healthy controls (157\u00b112 ms) (<jats:italic>p<\/jats:italic>=0.002). The T2 relaxation time was slightly increased (40\u00b13 ms) as compared to the controls (35\u00b17 ms; not significant,<jats:italic>p<\/jats:italic>=0.3). Our findings suggest that the thigh muscles of the patients with GA universally show changes in CT and MRI studies, but relaxation time measurements gave little additional information on the muscle metabolism.<\/jats:p>","DOI":"10.1007\/bf01799162","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T16:37:24Z","timestamp":1119371844000},"page":"729-734","source":"Crossref","is-referenced-by-count":12,"title":["Skeletal muscle of patients with gyrate atrophy of the choroid and retina and hyperornithinaemia in ultralow\u2010field magnetic resonance imaging and computed tomography"],"prefix":"10.1002","volume":"19","author":[{"given":"M.","family":"Valtonen","sequence":"first","affiliation":[{"name":"Department of Diagnostic Radiology University of Turku  Kiinanmyllynkatu 4\u20108 Turku FIN\u201020520 Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"N\u00e4nt\u00f6\u2010Salonen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Turku and University Central Hospital of Turku  Turku Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Hein\u00e4nen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Turku and University Central Hospital of Turku  Turku Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Alanen","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Radiology University of Turku  Kiinanmyllynkatu 4\u20108 Turku FIN\u201020520 Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Kalimo","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Turku and University Central Hospital of Turku  Turku Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O.","family":"Simell","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Turku and University Central Hospital of Turku  Turku Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[1995,8,31]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1088\/0031-9155\/36\/7\/004"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/00004424-199306000-00013"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.1994.tb02644.x"},{"key":"e_1_2_1_5_1","first-page":"523","article-title":"Diagnostic value of CT scanning in neuromuscular diseases","volume":"23","author":"Bulcke JAL","year":"1983","journal-title":"Radiologe"},{"key":"e_1_2_1_6_1","first-page":"19","volume-title":"Muscle Biopsy. A Practical Approach","author":"Dubowitz V","year":"1985"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.1979.tb02942.x"},{"key":"e_1_2_1_8_1","first-page":"76","article-title":"Magnetic field dependence of 1\/T1 of protons in tissue","volume":"25","author":"Koenig S","year":"1990","journal-title":"Invest Radiol"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.169.2.3175009"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1259\/0007-1285-63-756-946"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0730-725X(86)90045-7"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1177\/028418518602700217"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/00004424-198805000-00007"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(73)90667-3"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.29.7.996"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01799162","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01799162","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T12:26:22Z","timestamp":1694780782000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF01799162"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,8,31]]},"references-count":14,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1996,11]]}},"alternative-id":["10.1007\/BF01799162"],"URL":"https:\/\/doi.org\/10.1007\/bf01799162","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,8,31]]}}}