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Whole-exome sequencing detected a novel AIFM1 variant in a Han-Chinese family with Cowchock syndrome

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 pathogenic gene of...

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Detalles Bibliográficos
Autores principales:	Wang, Chenyu, Lin, Zhaojing, Yuan, ZhuangZhuang, Tang, Tieyu, Fan, Liangliang, Liu, Yihui, Wu, Xuan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Brief Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10176718/ https://www.ncbi.nlm.nih.gov/pubmed/37173762 http://dx.doi.org/10.1186/s41065-023-00282-z

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