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Article

PLEKHG5-related autosomal recessive lower motor neuron disease with dysmyelination in peripheral nerves.

Clinical neuropathology - 1 Jan 2000

Miao Yuanfeng, Yu Meng, Meng Lingchao, Zhang Wei, Lv He, Wang Zhaoxia, Yuan Yun

Abstract excerpt

OBJECTIVE: Pleckstrin homology domain-containing family G member 5 (PLEKHG5) is a nuclear factor-κ-B-activator gene that predominantly expresses in the neurons and Schwann cells of the peripheral nervous system. Variations in the PLEKHG5 have shown an intermediate form of autosomal recessive Charcot-Marie-Tooth disease and lower motor neuron disease in childhood. MATERIALS AND METHODS: This study investigated...

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Charcot-Marie-Tooth Disease
Child, Preschool
Demyelinating Diseases
Guanine Nucleotide Exchange Factors
Motor Neuron Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Peripheral Nerves

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PMID: 34236308
DOI: 10.5414/NP301377

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