| Title |
Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J
|
|---|---|
| Published in |
Molecular Neurobiology, September 2015
|
| DOI | 10.1007/s12035-015-9439-0 |
| Pubmed ID | |
| Authors |
Wen Zheng, Han Chen, Xiong Deng, Lamei Yuan, Yan Yang, Zhi Song, Zhijian Yang, Yuan Wu, Hao Deng |
| Abstract |
Limb-girdle muscular dystrophies (LGMD) are a highly heterogeneous group of genetic myopathies characterized by progressive proximal pelvic and/or shoulder girdle muscle weakness, with the onset ages ranging from early childhood to late adulthood. The identification of these dystrophies through genetic testing will not only inform long-term prognosis but will also assist in directing care more efficiently, including more frequent cardiorespiratory monitoring and prophylactic treatments. The aim of this study was to identify the responsible gene in a five-generation Chinese Han pedigree with autosomal recessive LGMD. Exome sequencing was conducted and a novel mutation c.107788T>C (p.W35930R) in the titin gene (TTN) was identified. The mutation co-segregated with the disorder in the family and was absent in normal controls. Our discovery broadens the mutation spectrum of the TTN gene associated with LGMD2J. |
X Demographics
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 40 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Canada | 1 | 3% |
| Unknown | 39 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 7 | 18% |
| Student > Postgraduate | 5 | 13% |
| Student > Doctoral Student | 5 | 13% |
| Researcher | 4 | 10% |
| Student > Master | 4 | 10% |
| Other | 13 | 33% |
| Unknown | 2 | 5% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 13 | 33% |
| Medicine and Dentistry | 10 | 25% |
| Neuroscience | 5 | 13% |
| Agricultural and Biological Sciences | 4 | 10% |
| Nursing and Health Professions | 2 | 5% |
| Other | 2 | 5% |
| Unknown | 4 | 10% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 25 September 2015.
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#20,292,660
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Outputs from Molecular Neurobiology
#2,792
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#230,190
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Outputs of similar age from Molecular Neurobiology
#71
of 105 outputs
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