Whole-exome sequencing detected a novel AIFM1 variant in a Han-Chinese family with Cowchock syndrome
Abstract Charcot-Marie-Tooth disease(CMT) is a hereditary peripheral neuropathy, characterized by progressive distal hypoesthesia and amyotrophia. CMT is characterized by an X- linked recessive inheritance pattern. The apoptosis-inducing factor mitochondria associated-1 (AIFM1) is the main pathogeni...
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| Principais autores: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMC
2023-05-01
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| coleção: | Hereditas |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.1186/s41065-023-00282-z |
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