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Article

Homozygous deletion in <i>MICU1</i> presenting with fatigue and lethargy in childhood

4 Mar 2016

Abstract excerpt

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 mutation. Functional analysis in the patient fibroblasts included oxygen consumption measurements, extracellular acidification studies, Western blotting, and calcium imaging, followed by...

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PMID: 27123478
DOI: 10.1212/nxg.0000000000000059

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