Myopathy with lobulated fibers, cores, and rods caused by a mutation in collagen VI
Neurology
.
2012 Dec 4;79(23):2288-90.
doi: 10.1212/WNL.0b013e31827689fb.
Epub 2012 Nov 21.
Authors
Kristl G Claeys
1
,
Simone Schrading
,
Ahmet Bozkurt
,
Almuth Friedrich-Freksa
,
Norbert Pallua
,
Christiane Kuhl
,
Jörg B Schulz
,
Joachim Weis
Affiliation
1
Department of Neurology, RWTH Aachen University, Aachen, Germany. kclaeys@ukaachen.de
PMID:
23175733
DOI:
10.1212/WNL.0b013e31827689fb
No abstract available
Publication types
Case Reports
MeSH terms
Collagen Type VI / genetics*
Female
Humans
Middle Aged
Muscle Weakness / genetics*
Muscle Weakness / pathology
Muscular Diseases / genetics*
Muscular Diseases / pathology
Mutation*
Substances
Collagen Type VI