Title |
A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance
|
---|---|
Published in |
BMC Neurology, June 2014
|
DOI | 10.1186/1471-2377-14-118 |
Pubmed ID | |
Authors |
Maik Engeholm, Julia Sekler, David C Schöndorf, Vineet Arora, Jens Schittenhelm, Saskia Biskup, Caroline Schell, Thomas Gasser |
Abstract |
Charcot-Marie-Tooth disease (CMT) refers to a heterogeneous group of genetic motor and sensory neuropathies. According to the primary site of damage, a distinction is made between demyelinating and axonal forms (CMT1 and 2, respectively, when inherited as an autosomal dominant trait). Leucine-rich repeat and sterile alpha motif-containing protein 1 (LRSAM1) is a ubiquitin-protein ligase with a role in sorting internalised cell-surface receptor proteins. So far, mutations in the LRSAM1 gene have been shown to cause axonal CMT in three different families and can confer either dominant or recessive transmission of the disease. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Australia | 1 | 33% |
Unknown | 2 | 67% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 3 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 39 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 8 | 21% |
Other | 7 | 18% |
Researcher | 6 | 15% |
Student > Bachelor | 4 | 10% |
Student > Doctoral Student | 2 | 5% |
Other | 8 | 21% |
Unknown | 4 | 10% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 7 | 18% |
Biochemistry, Genetics and Molecular Biology | 7 | 18% |
Medicine and Dentistry | 5 | 13% |
Neuroscience | 4 | 10% |
Nursing and Health Professions | 3 | 8% |
Other | 5 | 13% |
Unknown | 8 | 21% |