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Investigation of muscle disease.

作者信息

Mastaglia F L, Laing N G

机构信息

Australian Neuromuscular Research Institute, Queen Elizabeth II Medical Centre, Perth, Western Australia.

出版信息

J Neurol Neurosurg Psychiatry. 1996 Mar;60(3):256-74. doi: 10.1136/jnnp.60.3.256.

DOI:10.1136/jnnp.60.3.256
PMID:8609501
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1073847/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/af0c/1073847/17bf93959643/jnnpsyc00015-0016-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/af0c/1073847/4ac54d024df8/jnnpsyc00015-0012-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/af0c/1073847/7cc3b1f226b9/jnnpsyc00015-0014-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/af0c/1073847/17bf93959643/jnnpsyc00015-0016-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/af0c/1073847/4ac54d024df8/jnnpsyc00015-0012-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/af0c/1073847/7cc3b1f226b9/jnnpsyc00015-0014-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/af0c/1073847/17bf93959643/jnnpsyc00015-0016-a.jpg

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本文引用的文献

1
Computed tomography of the skeletal musculature in Becker-type muscular dystrophy and benign infantile spinal muscular atrophy.贝克型肌营养不良症和良性婴儿型脊髓性肌萎缩症的骨骼肌计算机断层扫描
Muscle Nerve. 1985 Jun;8(5):435-44. doi: 10.1002/mus.880080514.
2
Inclusion body myositis.包涵体肌炎
J Neurol Neurosurg Psychiatry. 1996 Mar;60(3):251-5. doi: 10.1136/jnnp.60.3.251.
3
The 8,344 mutation in mitochondrial DNA: a comparison between the proportion of mutant DNA and clinico-pathologic findings.线粒体DNA中的8344突变:突变DNA比例与临床病理结果之间的比较。
Neuromuscul Disord. 1995 Nov;5(6):483-8. doi: 10.1016/0960-8966(95)00009-c.
4
A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis.
Neuromuscul Disord. 1995 Nov;5(6):441-3. doi: 10.1016/0960-8966(95)00022-f.
5
Hereditary nondystrophic myotonias and periodic paralyses.遗传性非营养不良性肌强直和周期性瘫痪。
Curr Opin Neurol. 1995 Oct;8(5):402-10. doi: 10.1097/00019052-199510000-00014.
6
Discordance between phenotype and genotype in malignant hyperthermia.恶性高热中表型与基因型的不一致。
Curr Opin Neurol. 1995 Oct;8(5):397-401. doi: 10.1097/00019052-199510000-00013.
7
Inherited disorders of contractile proteins in skeletal and cardiac muscle.骨骼肌和心肌收缩蛋白的遗传性疾病。
Curr Opin Neurol. 1995 Oct;8(5):391-6. doi: 10.1097/00019052-199510000-00012.
8
Congenital muscular dystrophies.
Curr Opin Neurol. 1995 Oct;8(5):385-90. doi: 10.1097/00019052-199510000-00011.
9
Sporadic lower limb hypertrophy and exercise induced myalgia in a woman with dystrophin gene deletion.一名患有肌营养不良蛋白基因缺失的女性出现散发性下肢肥大和运动诱发的肌痛。
J Neurol Neurosurg Psychiatry. 1995 Nov;59(5):552-4. doi: 10.1136/jnnp.59.5.552.
10
Mitochondrial diseases: genotype versus phenotype.线粒体疾病:基因型与表型
Trends Genet. 1993 Apr;9(4):128-33. doi: 10.1016/0168-9525(93)90207-x.