98P Biallelic pathogenic PLEKHG5 variants in a girl with childhood-onset lower motor neuron disease
The PLEKHG5 gene encodes a protein that induces the nuclear factor kappa B (NFjB) signaling pathway. Biallelic pathogenic variants in PLEKHG5 have been linked to distal spinal muscular atrophy IV and intermediate axonal neuropathy. We present a six-year-old girl complaining of difficulties climbing...
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| Published in: | Neuromuscular disorders : NMD Vol. 43; p. 104441 |
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| Main Authors: | , , , |
| Format: | Journal Article |
| Language: | English |
| Published: |
Elsevier B.V
01-10-2024
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| Online Access: | Get full text |
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