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Reporting a Novel Gene Mutation in Glycogen Storage Disease Type VII (Tarui Disease).

作者信息

Gupta Manisha, Sangeeth Thuppanattumadam A, Sukrutha Ramya, Udupi Gautham A, Kumar Rashmi S, Nanjegowda Nandeesh B, Kulkarni Girish B

机构信息

Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.

Department of Human Genetics, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.

出版信息

Ann Indian Acad Neurol. 2025 Jan 1;28(1):128-131. doi: 10.4103/aian.aian_574_24. Epub 2024 Nov 13.

DOI:10.4103/aian.aian_574_24
PMID:39808070
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11892955/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d4d9/11892955/6067916c5af5/AIAN-28-128-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d4d9/11892955/fd4230c40b75/AIAN-28-128-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d4d9/11892955/4ba6b9a27eb2/AIAN-28-128-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d4d9/11892955/6067916c5af5/AIAN-28-128-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d4d9/11892955/fd4230c40b75/AIAN-28-128-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d4d9/11892955/4ba6b9a27eb2/AIAN-28-128-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d4d9/11892955/6067916c5af5/AIAN-28-128-g003.jpg

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1
Reporting a Novel Gene Mutation in Glycogen Storage Disease Type VII (Tarui Disease).糖原贮积病VII型（Tarui病）一种新基因突变的报告。
Ann Indian Acad Neurol. 2025 Jan 1;28(1):128-131. doi: 10.4103/aian.aian_574_24. Epub 2024 Nov 13.
2
Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group.国际研究小组关于糖原贮积病V型和VII型（麦克尔迪病和塔瑞氏病）的临床实践指南。
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3
Erratum to ``Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group'' [Neuromuscular Disorders 31 (2021) 1296-1310].《国际研究小组关于糖原贮积病V型和VII型（麦克尔迪病和塔瑞氏病）的临床实践指南》勘误 [《神经肌肉疾病》31卷（2021年）第1296 - 1310页] 。
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Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease.在患有塔瑞氏病的阿什肯纳兹犹太患者中，磷酸果糖激酶肌肉亚基基因的无义突变与其中一个分离转录本中内含子10的保留有关。
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本文引用的文献

1
Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group.国际研究小组关于糖原贮积病V型和VII型（麦克尔迪病和塔瑞氏病）的临床实践指南。
Neuromuscul Disord. 2021 Dec;31(12):1296-1310. doi: 10.1016/j.nmd.2021.10.006. Epub 2021 Oct 28.
2
Polyglucosan storage myopathies.多聚葡聚糖贮积性肌病。
Mol Aspects Med. 2015 Dec;46:85-100. doi: 10.1016/j.mam.2015.08.006. Epub 2015 Aug 13.
3
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
4
Tarui disease and distal glycogenoses: clinical and genetic update.塔鲁伊病和远端糖原贮积病：临床与遗传学新进展
Acta Myol. 2007 Oct;26(2):105-7.
5
Histochemical diagnosis of muscle phosphofructokinase deficiency.肌肉磷酸果糖激酶缺乏症的组织化学诊断
Arch Neurol. 1970 Jan;22(1):8-12. doi: 10.1001/archneur.1970.00480190012002.
6
Glucose-induced exertional fatigue in muscle phosphofructokinase deficiency.
N Engl J Med. 1991 Feb 7;324(6):364-9. doi: 10.1056/NEJM199102073240603.