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常染色体隐性遗传性远端肌病

Autosomal recessive distal myopathy.

作者信息

Isaacs H, Badenhorst M E, Whistler T

机构信息

Department of Physiology, Witwatersrand University Medical School, Johannesburg, South Africa.

出版信息

J Clin Pathol. 1988 Feb;41(2):188-94. doi: 10.1136/jcp.41.2.188.

DOI:10.1136/jcp.41.2.188
PMID:3350979
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1141376/
Abstract

Five patients with an autosomally recessively transmitted distal myopathy were investigated. Of these, three belonged to a single sibship. Studies included electromyography, histological examination of muscle tissue, histochemical, electron microscopical, and biochemical analyses. One of the cases resembled the Nonaka form while the others were regarded as expressions of the commoner variety of recessive distal dystrophy.

摘要

对5例患有常染色体隐性遗传的远端肌病患者进行了研究。其中，3例来自同一个同胞家族。研究包括肌电图检查、肌肉组织的组织学检查、组织化学、电子显微镜和生化分析。其中1例病例类似于野中（Nonaka）型，而其他病例被认为是较常见的隐性远端肌营养不良症的表现形式。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9eb4/1141376/42fb25c477d2/jclinpath00334-0071-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9eb4/1141376/b82c3c41a579/jclinpath00334-0072-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9eb4/1141376/6d90dda16424/jclinpath00334-0072-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9eb4/1141376/79a97ff0f085/jclinpath00334-0072-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9eb4/1141376/7d10c191ff89/jclinpath00334-0069-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9eb4/1141376/a52c2a4dffa0/jclinpath00334-0069-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9eb4/1141376/930498d86de8/jclinpath00334-0070-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9eb4/1141376/6071d59d3e34/jclinpath00334-0071-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9eb4/1141376/42fb25c477d2/jclinpath00334-0071-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9eb4/1141376/b82c3c41a579/jclinpath00334-0072-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9eb4/1141376/6d90dda16424/jclinpath00334-0072-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9eb4/1141376/79a97ff0f085/jclinpath00334-0072-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9eb4/1141376/7d10c191ff89/jclinpath00334-0069-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9eb4/1141376/a52c2a4dffa0/jclinpath00334-0069-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9eb4/1141376/930498d86de8/jclinpath00334-0070-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9eb4/1141376/6071d59d3e34/jclinpath00334-0071-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9eb4/1141376/42fb25c477d2/jclinpath00334-0071-b.jpg

相似文献

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Autosomal recessive distal myopathy.常染色体隐性遗传性远端肌病
J Clin Pathol. 1988 Feb;41(2):188-94. doi: 10.1136/jcp.41.2.188.
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引用本文的文献

1
Distal myopathies.远端肌病。
Neurol Clin. 2014 Aug;32(3):817-42, x. doi: 10.1016/j.ncl.2014.04.004. Epub 2014 May 15.
2
The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12.常染色体隐性肢带型肌营养不良的第七种类型定位于17q11 - 12。
Am J Hum Genet. 1997 Jul;61(1):151-9. doi: 10.1086/513889.

本文引用的文献

1
Myopathia distalis tarda hereditaria; 249 examined cases in 72 pedigrees.迟发性遗传性远端肌病；72个家系中的249例受检病例。
Acta Med Scand Suppl. 1951;265:1-124.
2
Myoadenylate deaminase deficiency--muscle biopsy and muscle culture in a patient with gout.肌腺苷酸脱氨酶缺乏症——痛风患者的肌肉活检与肌肉培养
J Neurol Sci. 1980 Aug;47(2):191-202. doi: 10.1016/0022-510x(80)90003-9.
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Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation.伴有镶边空泡和板层（髓样）小体形成的家族性远端肌病。
J Neurol Sci. 1981 Jul;51(1):141-55. doi: 10.1016/0022-510x(81)90067-8.
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Hereditary distal myopathy with filamentous inclusions.伴有丝状包涵体的遗传性远端肌病
Acta Neurol Scand. 1982 Apr;65(4):363-8. doi: 10.1111/j.1600-0404.1982.tb03093.x.
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Distal myopathy: histochemical and ultrastructural studies.远端肌病：组织化学与超微结构研究
Arch Neurol. 1982 Jun;39(6):367-71. doi: 10.1001/archneur.1982.00510180045011.
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Distal muscular dystrophy with autosomal recessive inheritance.常染色体隐性遗传的远端型肌营养不良症
Muscle Nerve. 1984 Jul-Aug;7(6):478-81. doi: 10.1002/mus.880070610.
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A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments.一种新型的遗传性远端肌病，具有特征性的肌浆体和中间（骨骼素）细丝。
J Neurol Sci. 1980 Aug;47(2):171-90. doi: 10.1016/0022-510x(80)90002-7.
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A new type of distal myopathy in two brothers.两兄弟患新型远端肌病。
J Neurol. 1981;226(3):181-5. doi: 10.1007/BF00313379.
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Sporadic distal myopathy.散发性远端肌病
J Neurol. 1981;224(4):291-5. doi: 10.1007/BF00313293.
10
Hereditary distal myopathy with onset in infancy.婴儿期起病的遗传性远端肌病。
Arch Neurol. 1965 Oct;13(4):387-90. doi: 10.1001/archneur.1965.00470040053008.