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面肩肱型慢性脊髓性肌萎缩症

Chronic spinal muscular atrophy of facioscapulohumeral type.

作者信息

Furukawa T, Toyokura Y

出版信息

J Med Genet. 1976 Aug;13(4):285-9. doi: 10.1136/jmg.13.4.285.

Abstract

Chronic spinal muscular atrophy of FSH type affecting a mother and her son and daughter is reported. The relevant literature is reviewed and the relation between this conditon and Kugelberg-Welander (K-W) disease is discussed. Chronic spinal muscular atrophy of FSH type is considered to be a different entity from the eponymous K-W disease. Each type of muscular dystrophy, e.g. limb-girdle, FSH, distal, ocular, or oculopharyngeal type, has its counterpart of nuclear origin. A classification of the chronic spinal muscular atrophies is suggested following the classification of muscular dystrophy.

摘要

报告了一例影响母亲及其儿子和女儿的面肩肱型慢性脊髓性肌萎缩症。回顾了相关文献并讨论了这种病症与库格尔贝格 - 韦兰德(K-W)病之间的关系。面肩肱型慢性脊髓性肌萎缩症被认为是一种与同名的K-W病不同的疾病实体。每种类型的肌营养不良症,例如肢带型、面肩肱型、远端型、眼肌型或眼咽型,都有其核起源的对应类型。建议按照肌营养不良症的分类对慢性脊髓性肌萎缩症进行分类。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0e4b/1013417/66e2cd1ceb5b/jmedgene00311-0034-a.jpg

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