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Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI a2(VI) chain.

Pubmed ID: 
25533456
Year: 
2015
Month: 
FEB
Volume: 
290
Issue: 
7
Citation: 
Zamurs LK, Idoate MA, Hanssen E, Gomez-Ibañez A, Pastor P, Lamandé SR. Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI a2(VI) chain. The Journal of biological chemistry 290 (7) : 4272 - 81(2015) PubMed (Grant IDs: 491252, 436903)