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- W1053817829 abstract "Six year old boy had slow psychomotor development from an early age. Sitting independently at the age of 11 months and walking at the age of 17 months. He was always clumsy, often stumbling and falling. Neurological examination on admission to the Institute at the age of 6.6 years: wasting of leg muscles, moderate weakness of proximal and distal muscles of legs, absent deep tendon reflexes; eqinovarus. Upper limbs, cranial nerves and sensory exam including hearing were found normal. Magnetic resonance of the brain was normal, and developmental quotient was 78. Electromyoneurographic examination (EMG) showed signs of sensitive and motor demyelinating neuropathy of a severe degree. Data on ethnicity of Bulgarian Gypsy directed us to the molecular – genetic testing, which was conducted at the Faculty of Biology in Belgrade. It was found that the boy has a homozygous mutation c.442>T in the NDRG1 gene. EMG examination is of great importance in the diagnosis of hereditary neuropathy, and in accordance with clinical signs directing us to the molecular genetic studies, which are important for establishing the diagnosis and providing appropriate genetic advice to the patients and their families." @default.
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- W1053817829 date "2015-09-01" @default.
- W1053817829 modified "2023-09-23" @default.
- W1053817829 title "Hereditary motor and sensory neuropathy lom type in 6-year-old boy: Case report" @default.
- W1053817829 doi "https://doi.org/10.1016/j.clinph.2015.04.036" @default.
- W1053817829 hasPublicationYear "2015" @default.
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