イシガキ　ケイコ   Ishigaki Keiko   石垣　景子    所属   医学部 医学科（東京女子医科大学病院）    職種   准教授
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	Characteristic findings of skeletal muscle MRI in caveolinopathies.
掲載誌名	正式名：Neuromuscular disorders : NMD 略　 称：Neuromuscul Disord ISSNコード：18732364/09608966
掲載区分	国外
巻・号・頁	28(10),pp.857-862
著者・共著者	ISHIGURO Kumiko†, NAKAYAMA Takahiro, YOSHIOKA Masaru, MURAKAMI Termi, KAGINO Sachiko, SHICHIJI Minobu, SATO Takatoshi, HINO-FUKUYO Naomi, KURU Satoshi, OSAWA Makiko, NAGATA Satoru, OKUBO Mariko, MURAKAMI Nobuyuki, HAYASHI Yukiko K, NISHINO Ichizo, ISHIGAKI Keiko*
担当区分	責任著者
発行年月	2018/10
概要	Caveolinopathies, caused by CAV3 mutations, can include several phenotypes such as rippling muscle disease, limb-girdle muscular dystrophy type 1C, distal myopathy, familial hypertrophic cardiomyopathy, and idiopathic hyperCKemia. Here we present characteristic skeletal muscle imaging findings in four patients with genetically defined childhood-onset RMD caused by CAV3 mutations and in one patient with congenital generalized lipodystrophy type 4 with muscular dystrophy due to polymerase I and transcript release factor (PTRF) mutations, which may have caused secondary deficiency of caveolin-3. Muscle MRI revealed that the rectus femoris and semitendinosus muscles were most commonly affected in the rippling muscle disease patients. Peripheral changes in the rectus femoris were specific and observed even in one of the younger patients in this study. Furthermore, muscle involvement extended to the semitendinosus muscles, biceps femoris, and gracilis with disease progression or increase in its severity. Similar patterns of involvement were observed on reviewing skeletal muscle images of various previously reported phenotypes of caveolinopathy; interestingly, patients with secondary deficiency of caveolin due to PTRF mutations revealed the same pattern. Thus, primary caveolinopathies and secondary deficiency of caveolin demonstrated specific findings on skeletal muscle imaging, regardless of the broad phenotypic spectrum of these two conditions.
DOI	10.1016/j.nmd.2018.07.010
PMID	30174172