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Article

Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain.

The Journal of biological chemistry - 13 Feb 2015

Zamurs Laura K, Idoate Miguel A, Hanssen Eric, Gomez-Ibañez Asier, Pastor Pau, Lamandé Shireen R

Abstract excerpt

Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD) sit at opposite ends of a clinical spectrum caused by mutations in the extracellular matrix protein collagen VI. Bethlem myopathy is relatively mild, and patients remain ambulant in adulthood while many UCMD patients lose ambulation by their teenage years and require respiratory interventions. Dominant and recessive mutations are found across the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25533456
DOI: 10.1074/jbc.M114.632208
PMCID: PMC4326835

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