TY - JOUR
T1 - Characteristic findings of skeletal muscle MRI in caveolinopathies
AU - Ishiguro, Kumiko
AU - Nakayama, Takahiro
AU - Yoshioka, Masaru
AU - Murakami, Terumi
AU - Kajino, Sachiko
AU - Shichiji, Minobu
AU - Sato, Takatoshi
AU - Hino-Fukuyo, Naomi
AU - Kuru, Satoshi
AU - Osawa, Makiko
AU - Nagata, Satoru
AU - Okubo, Mariko
AU - Murakami, Nobuyuki
AU - Hayashi, Yukiko K.
AU - Nishino, Ichizo
AU - Ishigaki, Keiko
N1 - Funding Information:
This work was supported by Intramural Research Grant ( 29–3 ) for Neurological and Psychiatric Disorders of NCNP.
Publisher Copyright:
© 2018 Elsevier B.V.
Copyright:
Copyright 2018 Elsevier B.V., All rights reserved.
PY - 2018/10
Y1 - 2018/10
N2 - 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.
AB - 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.
KW - Caveolin-3
KW - Caveolinopathy
KW - Limb-girdle muscular dystrophy 1C
KW - Polymerase I and transcript release factor
KW - Rippling muscle disease
KW - Skeletal muscle magnetic resonance imaging
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U2 - 10.1016/j.nmd.2018.07.010
DO - 10.1016/j.nmd.2018.07.010
M3 - Article
C2 - 30174172
AN - SCOPUS:85054078999
VL - 28
SP - 857
EP - 862
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
SN - 0960-8966
IS - 10
ER -