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一种出生时即出现的伴有先天性多发性关节挛缩的显性遗传性下运动神经元疾病。

A dominantly inherited lower motor neuron disorder presenting at birth with associated arthrogryposis.

作者信息

Fleury P, Hageman G

出版信息

J Neurol Neurosurg Psychiatry. 1985 Oct;48(10):1037-48. doi: 10.1136/jnnp.48.10.1037.

DOI:10.1136/jnnp.48.10.1037
PMID:4056805
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1028545/
Abstract

Of a family consisting of 54 members, 44 were examined. Twenty-one showed signs of a clinically non-progressive congenital lower motor neuron disorder restricted to the lower part of the body, which resulted in arthrogryposis in 15 cases. The mode of inheritance is autosomal dominant with very varied expression of the gene.

摘要

在一个由54名成员组成的家族中，对44人进行了检查。21人表现出一种临床非进行性先天性下运动神经元疾病的体征，该疾病局限于身体下部，15例导致关节挛缩。遗传方式为常染色体显性遗传，基因表达差异很大。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e86d/1028545/ace161230538/jnnpsyc00114-0082-a.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e86d/1028545/099850f85089/jnnpsyc00114-0076-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e86d/1028545/1d71944cfd2c/jnnpsyc00114-0077-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e86d/1028545/70c7f6ea9097/jnnpsyc00114-0077-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e86d/1028545/7702120c2a16/jnnpsyc00114-0078-a.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e86d/1028545/ace161230538/jnnpsyc00114-0082-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e86d/1028545/251b5903d5b3/jnnpsyc00114-0075-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e86d/1028545/d17d817c587d/jnnpsyc00114-0075-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e86d/1028545/58e592fdd052/jnnpsyc00114-0075-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e86d/1028545/8820a7681a1b/jnnpsyc00114-0076-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e86d/1028545/099850f85089/jnnpsyc00114-0076-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e86d/1028545/1d71944cfd2c/jnnpsyc00114-0077-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e86d/1028545/70c7f6ea9097/jnnpsyc00114-0077-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e86d/1028545/7702120c2a16/jnnpsyc00114-0078-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e86d/1028545/43a48a318d23/jnnpsyc00114-0078-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e86d/1028545/18231c04e2d0/jnnpsyc00114-0080-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e86d/1028545/50cd03db6d9e/jnnpsyc00114-0081-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e86d/1028545/ace161230538/jnnpsyc00114-0082-a.jpg

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TRPV4 mutations causing mixed neuropathy and skeletal phenotypes result in severe gain of function.TRPV4 突变导致混合性神经病和骨骼表型，导致严重的功能获得。
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Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.新型突变扩展了与动力蛋白1重链1（DYNC1H1）相关的脊髓性肌萎缩症的临床谱。
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