| Title |
A case report: Becker muscular dystrophy presenting with epilepsy and dysgnosia induced by duplication mutation of Dystrophin gene
|
|---|---|
| Published in |
BMC Neurology, December 2016
|
| DOI | 10.1186/s12883-016-0777-y |
| Pubmed ID | |
| Authors |
Jing Miao, Jia-chun Feng, Dan Zhu, Xue-fan Yu |
| Abstract |
Becker muscular dystrophy (BMD), a genetic disorder of X-linked recessive inheritance, typically presents with gradually progressive muscle weakness. The condition is caused by mutations of Dystrophin gene located at Xp21.2. Epilepsy is an infrequent manifestation of BMD, while cases of BMD with dysgnosia are extremely rare. We describe a 9-year-old boy with BMD, who presented with epilepsy and dysgnosia. Serum creatine kinase level was markedly elevated (3665 U/L). Wechsler intelligence tests showed a low intelligence quotient (IQ = 65). Electromyogram showed slight myogenic changes and skeletal muscle biopsy revealed muscular dystrophy. Immunohistochemical staining showed partial positivity of sarcolemma for dystrophin-N. Multiplex ligation-dependent probe amplification revealed a duplication mutation in exons 37-44 in the Dystrophin gene. The present case report helps to better understand the clinical and genetic features of BMD. |
X Demographics
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Practitioners (doctors, other healthcare professionals) | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 17 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 17 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 4 | 24% |
| Professor | 2 | 12% |
| Researcher | 2 | 12% |
| Other | 1 | 6% |
| Student > Master | 1 | 6% |
| Other | 1 | 6% |
| Unknown | 6 | 35% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 5 | 29% |
| Biochemistry, Genetics and Molecular Biology | 3 | 18% |
| Pharmacology, Toxicology and Pharmaceutical Science | 1 | 6% |
| Immunology and Microbiology | 1 | 6% |
| Agricultural and Biological Sciences | 1 | 6% |
| Other | 0 | 0% |
| Unknown | 6 | 35% |
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 12 December 2016.
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#21,264,673
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Outputs from BMC Neurology
#2,230
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#359,200
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Outputs of similar age from BMC Neurology
#37
of 41 outputs
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