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Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy

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Bibliographic Details
Published in:	Clinical genetics 2021-05, Vol.99 (5), p.746-748
Main Authors:	McMillan, Hugh J., Marshall, Aren E., Venkateswaran, Sunita, Hartley, Taila, Warman‐Chardon, Jodi, Ramani, Arun K., Marshall, Christian R., Michaud, Jean, Boycott, Kym M., Dyment, David A., Kernohan, Kristin D.
Format:	Article
Language:	English
Subjects:	Adolescent Alleles Atrophy Biopsy Cerebellum Cerebellum - abnormalities Genomes Group VI Phospholipases A2 - genetics Humans Male Mutation Myopathies, Structural, Congenital - enzymology Myopathies, Structural, Congenital - genetics Myopathies, Structural, Congenital - pathology Myopathy Siblings Whole Genome Sequencing
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