Browsing HMS Scholarly Articles by Author "Pyle, Angela"

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    • Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood 

      Lewis-Smith, David; Kamer, Kimberli J.; Griffin, Helen; Childs, Anne-Marie; Pysden, Karen; Titov, Denis; Duff, Jennifer; Pyle, Angela; Taylor, Robert W.; Yu-Wai-Man, Patrick; Ramesh, Venkateswaran; Horvath, Rita; Mootha, Vamsi K.; Chinnery, Patrick F. (Wolters Kluwer, 2016)
      Objective: To define the mechanism responsible for fatigue, lethargy, and weakness in 2 cousins who had a normal muscle biopsy. Methods: Exome sequencing, long-range PCR, and Sanger sequencing to identify the pathogenic ...