Hereditary motor and sensory neuropathy, caused by mutations in the NEFL gene in a family from Karachaevo-Cherkessia
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چکیده
منابع مشابه
Hereditary sensory and autonomic neuropathy: A case report
A 24-year old female patient with the history of pressure ulcers in distal extremities resulted in severe deformity will be reported. Her disease started when she was 9 years old and a similar history was found in her brother. In physical examination, pain and temperature sensations were impaired in distal extremities. Nerve conduction velocity showed impaired sensory and normal motor responses...
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15 صفحه اولTalectomy for Equinovarus Deformity in Family Members with Hereditary Motor and Sensory Neuropathy Type I
The treatment of severe rigid neurogenic clubfoot deformities still remains a challenging problem in modern paediatric orthopaedics. In those cases, in spite of being a palliative procedure, talectomy has been advocated for the correction of the deformity thus providing a stable plantigrade foot which allows pain-free walking with standard footwear. Herein, we present the results after talectom...
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ژورنال
عنوان ژورنال: Neuromuscular Diseases
سال: 2016
ISSN: 2413-0443,2222-8721
DOI: 10.17650/2222-8721-2016-6-2-47-51