نتایج جستجو برای: clinical and pathological features

تعداد نتایج: 17014151  

Journal: :International Journal of Current Microbiology and Applied Sciences 2019

2018
Zhiyv Niu Carly Sabine Pontifex Sarah Berini Leslie E. Hamilton Elie Naddaf Eric Wieben Ross A. Aleff Kristina Martens Angela Gruber Andrew G. Engel Gerald Pfeffer Margherita Milone

Objective The aim of this study is to identify the molecular defect of three unrelated individuals with late-onset predominant distal myopathy; to describe the spectrum of phenotype resulting from the contributing role of two variants in genes located on two different chromosomes; and to highlight the underappreciated complex forms of genetic myopathies. Patients and methods Clinical and labo...

Journal: :Journal of Hepato-Biliary-Pancreatic Surgery 2008

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