A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1.
نویسندگان
چکیده
1 Department of Neurology, University of Basel Hospital, 4031 Basel, Switzerland 2 Division of Neuropaediatrics, University of Basel Childrens Hospital, 4056 Basel, Switzerland 3 Department of Orthopaedics, Medical University Vienna, 1090 Vienna, Austria 4 Institute of Human Genetics, Helmholtz Zentrum München German Research Center for Environmental Health, 85764 Neuherberg, Germany 5 Institute for Human Genetics, Technical University Munich, 81675 Munich, Germany
منابع مشابه
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.
Many neurodegenerative disorders present with sensory loss. In the group of hereditary sensory and autonomic neuropathies loss of nociception is one of the disease hallmarks. To determine underlying factors of sensory neurodegeneration we performed whole-exome sequencing in affected individuals with the disorder. In a family with sensory neuropathy with loss of pain perception and destruction o...
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ورودعنوان ژورنال:
- Brain : a journal of neurology
دوره 137 Pt 7 شماره
صفحات -
تاریخ انتشار 2014