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迟发性肢带型肌营养不良症的罕见病例:钙蛋白酶病。

A rare case of late-onset limb-girdle muscular dystrophy: Calpainopathy.

作者信息

Painkra Bhawana, Mallick Richa, Das Sumanta, Kumar Pramod, Chatterjee Prasun

机构信息

Department of Geriatric Medicine All India Institute of Medical Sciences New Delhi India.

Department of Pathology All India Institute of Medical Sciences New Delhi India.

出版信息

Aging Med (Milton). 2022 Jul 29;5(3):237-240. doi: 10.1002/agm2.12219. eCollection 2022 Sep.

DOI:10.1002/agm2.12219
PMID:36247336
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9549298/
Abstract

Limb-girdle muscular dystrophy is a genetic disorder usually presenting in younger age patients. This case report presents a case of late-onset limb-girdle muscular dystrophy type R1 (Calpainopathy) in a 65 year old patient.

摘要

肢带型肌营养不良症是一种通常在年轻患者中出现的遗传性疾病。本病例报告介绍了一名65岁患者患迟发性R1型肢带型肌营养不良症(钙蛋白酶病)的病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e000/9549298/99415bcafac2/AGM2-5-237-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e000/9549298/14873f28eeb8/AGM2-5-237-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e000/9549298/5b4ba18646de/AGM2-5-237-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e000/9549298/b0f693d6f325/AGM2-5-237-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e000/9549298/99415bcafac2/AGM2-5-237-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e000/9549298/14873f28eeb8/AGM2-5-237-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e000/9549298/5b4ba18646de/AGM2-5-237-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e000/9549298/b0f693d6f325/AGM2-5-237-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e000/9549298/99415bcafac2/AGM2-5-237-g001.jpg

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本文引用的文献

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BMC Neurol. 2021 Jun 25;21(1):241. doi: 10.1186/s12883-021-02264-y.
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A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.一个 CAPN3 基因的 21 个碱基对缺失导致显性遗传的肢带型肌肉营养不良症。
Brain. 2016 Aug;139(Pt 8):2154-63. doi: 10.1093/brain/aww133. Epub 2016 Jun 3.
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伴有椎旁肌假性肥大的晚发型1B型肢带型肌营养不良(LGMD1B)
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Ann Indian Acad Neurol. 2016 Jan-Mar;19(1):108-11. doi: 10.4103/0972-2327.175435.
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Body weight-supported training in Becker and limb girdle 2I muscular dystrophy.贝克尔型和肢带型2I型肌营养不良症的体重支持训练
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Neurol Clin. 2014 Aug;32(3):729-49, ix. doi: 10.1016/j.ncl.2014.04.005.
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Limb-girdle muscular dystrophy 2A.肢带型肌营养不良2A型
Handb Clin Neurol. 2011;101:97-110. doi: 10.1016/B978-0-08-045031-5.00006-2.
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Geriatric neurogenetics: oxymoron or reality?老年神经遗传学:是矛盾修辞还是现实?
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