Aberrant Mitochondria in a Bethlem Myopathy Patient with a Homozygous Amino Acid Substitution That Destabilizes the Collagen VI α2(VI) Chain
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry
Reference38 articles.
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3. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy;Baker;Hum. Mol. Genet,2005
4. Autosomal recessive Bethlem myopathy;Gualandi;Neurology,2009
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