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Gene Information
Gene symbol: DNAH5
Gene name: dynein, axonemal, heavy chain 5
HGNC ID: 2950
Synonyms: Dnahc5, HL1, PCD, CILD3, KTGNR
Related Genes
Related Sentences
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PMID |
Sentence |
1 |
23742762
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Mutations in the DYNC1H1 gene encoding for dynein heavy chain cause two closely related human motor neuropathies, dominant spinal muscular atrophy with lower extremity predominance (SMA-LED) and axonal Charcot-Marie-Tooth (CMT) disease, and lead to sensory neuropathy and striatal atrophy in mutant mice.
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2 |
23742762
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Here, we show that mouse fibroblasts bearing heterozygous or homozygous point mutation in Dync1h1, similar to human mutations, show profoundly abnormal mitochondrial morphology associated with the loss of mitofusin 1.
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