Two families with autosomal dominant progressive external ophthalmoplegia

Objectives: We report here the clinical and genetic features of two new families with autosomal dominant progressive external ophthalmoplegia (adPEO). Patients and methods: The examination of index patients included a detailed clinical characterisation, histological analysis of muscle biopsy specime...

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Autores principales: Kiechl, S, Horvath, R, Luoma, P, Kiechl-Kohlendorf..., U, Wallacher-Scholz, B, Stucka, R, Thaler, C, Wanschitz, J, Suomalainen, A, Jaksch, M, Willeit, J
Formato: Artigo
Lenguaje:Inglês
Publicado: BMJ Group 2004
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Paper
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1739155/
https://ncbi.nlm.nih.gov/pubmed/15258213
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp.2003.025890
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