A novel CAPN3 mutation in late-onset limb-girdle muscular dystrophy with early respiratory insufficiency
Copyright © 2018 Elsevier Ltd. All rights reserved..
We describe a 70 year-old independently ambulatory man with a 10-year history of progressive axial and limb-girdle weakness, hyperCKemia, and a 5-year history of dyspnea requiring nocturnal ventilatory support due to a known c.1309C>T (p.Arg437Cys) variant and a novel in-frame deletion of exons 17-19 in the calpain-3 encoding gene (CAPN3). Pulmonary function tests revealed neuromuscular respiratory weakness. Biceps femoris biopsy showed chronic myopathic changes, numerous lobulated fibers, and reduced calpain-3 immunoreactivity. Muscle immunoblot showed markedly reduced calpain-3 expression. Respiratory insufficiency is uncommon in autosomal recessive calpainopathy, and generally develops in the advanced stages of the disease when individuals become wheelchair-dependent. Our patient broadens the phenotypic spectrum of recessive calpainopathy to include early respiratory insufficiency and also further expands its molecular spectrum.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2018 |
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| Erschienen: |
2018 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:53 |
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| Enthalten in: |
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 53(2018) vom: 22. Juli, Seite 229-231 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Martinez-Thompson, Jennifer M [VerfasserIn] |
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| Links: |
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| Themen: |
Axial myopathy |
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| Anmerkungen: |
Date Completed 21.09.2018 Date Revised 23.10.2019 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1016/j.jocn.2018.04.025 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM283332832 |
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| 100 | 1 | |a Martinez-Thompson, Jennifer M |e verfasserin |4 aut | |
| 245 | 1 | 2 | |a A novel CAPN3 mutation in late-onset limb-girdle muscular dystrophy with early respiratory insufficiency |
| 264 | 1 | |c 2018 | |
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| 500 | |a Date Completed 21.09.2018 | ||
| 500 | |a Date Revised 23.10.2019 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright © 2018 Elsevier Ltd. All rights reserved. | ||
| 520 | |a We describe a 70 year-old independently ambulatory man with a 10-year history of progressive axial and limb-girdle weakness, hyperCKemia, and a 5-year history of dyspnea requiring nocturnal ventilatory support due to a known c.1309C>T (p.Arg437Cys) variant and a novel in-frame deletion of exons 17-19 in the calpain-3 encoding gene (CAPN3). Pulmonary function tests revealed neuromuscular respiratory weakness. Biceps femoris biopsy showed chronic myopathic changes, numerous lobulated fibers, and reduced calpain-3 immunoreactivity. Muscle immunoblot showed markedly reduced calpain-3 expression. Respiratory insufficiency is uncommon in autosomal recessive calpainopathy, and generally develops in the advanced stages of the disease when individuals become wheelchair-dependent. Our patient broadens the phenotypic spectrum of recessive calpainopathy to include early respiratory insufficiency and also further expands its molecular spectrum | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Axial myopathy | |
| 650 | 4 | |a CAPN3 | |
| 650 | 4 | |a Calpain-3 | |
| 650 | 4 | |a Early respiratory insufficiency | |
| 650 | 4 | |a LGMD2A | |
| 650 | 4 | |a Limb-girdle muscular dystrophy | |
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| 650 | 7 | |a CAPN3 protein, human |2 NLM | |
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| 650 | 7 | |a Calpain |2 NLM | |
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| 700 | 1 | |a Moore, Steven A |e verfasserin |4 aut | |
| 700 | 1 | |a Liewluck, Teerin |e verfasserin |4 aut | |
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