Two Japanese LGMDR25 patients with a biallelic recurrent nonsense variant of BVES
Copyright © 2020 Elsevier B.V. All rights reserved..
We report two Japanese patients with autosomal recessive limb-girdle muscular dystrophy type R25 (LGMDR25), harboring a novel recurrent homozygous nonsense variant of BVES. Muscle symptoms manifested from childhood to adulthood, initiated in the proximal or distal muscles of the lower limbs, and displayed asymmetric muscle involvement. Similar to the patients in previous reports, these patients also lost ambulation in late middle age. The posterior compartment of the lower limb muscles (biceps femoris, adductor magnus, gastrocnemius, and soleus) was preferentially affected as was the paraspinal muscle. Muscles in the anterior compartment of the thigh were affected in more advanced stages. Both patients had symptomatic atrioventricular block. The POPDC1 protein was undetectable in the muscles of the patients. As observed by transmission electron microscopy, one of the patient samples had fewer caveolae along the sarcolemma than a control sample.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2020 |
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| Erschienen: |
2020 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:30 |
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| Enthalten in: |
Neuromuscular disorders : NMD - 30(2020), 8 vom: 15. Aug., Seite 674-679 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Indrawati, Luh Ari [VerfasserIn] |
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| Links: |
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| Themen: |
BVES |
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| Anmerkungen: |
Date Completed 23.08.2021 Date Revised 23.08.2021 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1016/j.nmd.2020.06.004 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM312606915 |
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| 500 | |a Date Revised 23.08.2021 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright © 2020 Elsevier B.V. All rights reserved. | ||
| 520 | |a We report two Japanese patients with autosomal recessive limb-girdle muscular dystrophy type R25 (LGMDR25), harboring a novel recurrent homozygous nonsense variant of BVES. Muscle symptoms manifested from childhood to adulthood, initiated in the proximal or distal muscles of the lower limbs, and displayed asymmetric muscle involvement. Similar to the patients in previous reports, these patients also lost ambulation in late middle age. The posterior compartment of the lower limb muscles (biceps femoris, adductor magnus, gastrocnemius, and soleus) was preferentially affected as was the paraspinal muscle. Muscles in the anterior compartment of the thigh were affected in more advanced stages. Both patients had symptomatic atrioventricular block. The POPDC1 protein was undetectable in the muscles of the patients. As observed by transmission electron microscopy, one of the patient samples had fewer caveolae along the sarcolemma than a control sample | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 4 | |a BVES | |
| 650 | 4 | |a POPDC1 | |
| 650 | 4 | |a caveolae | |
| 650 | 4 | |a muscular dystrophy | |
| 650 | 7 | |a BVES protein, human |2 NLM | |
| 650 | 7 | |a Cell Adhesion Molecules |2 NLM | |
| 650 | 7 | |a Muscle Proteins |2 NLM | |
| 700 | 1 | |a Iida, Aritoshi |e verfasserin |4 aut | |
| 700 | 1 | |a Tanaka, Yuzo |e verfasserin |4 aut | |
| 700 | 1 | |a Honma, Yutaka |e verfasserin |4 aut | |
| 700 | 1 | |a Mizoguchi, Koichi |e verfasserin |4 aut | |
| 700 | 1 | |a Yamaguchi, Tomohisa |e verfasserin |4 aut | |
| 700 | 1 | |a Ikawa, Masamichi |e verfasserin |4 aut | |
| 700 | 1 | |a Hayashi, Shinichiro |e verfasserin |4 aut | |
| 700 | 1 | |a Noguchi, Satoru |e verfasserin |4 aut | |
| 700 | 1 | |a Nishino, Ichizo |e verfasserin |4 aut | |
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