Muscle MRI findings in limb girdle muscular dystrophy type 2L

Abstract Limb girdle muscular dystrophy type 2L (LGMD2L) is an adult-onset slowly progressive muscular dystrophy associated with recessive mutations in the ANO5 gene. We analysed the muscle MRI pattern in a cohort of 25 LGMD2L patients in order to understand the extent and progression of muscle path...

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Published in:Neuromuscular disorders : NMD 2012-10, Vol.22, p.S122-S129
Main Authors: Sarkozy, Anna, Deschauer, Marcus, Carlier, Robert-Yves, Schrank, Bertold, Seeger, Jürgen, Walter, Maggie C, Schoser, Benedikt, Reilich, Peter, Leturq, France, Radunovic, Aleksandar, Behin, Anthony, Laforet, Pascal, Eymard, Bruno, Schreiber, Herbert, Hicks, Debbie, Vaidya, Sujit S, Gläser, Dieter, Carlier, Pierre G, Bushby, Kate, Lochmüller, Hanns, Straub, Volker
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
ANO5
Anoctamins
Chloride Channels - genetics
Female
Humans
LGM2L
Lower Extremity - pathology
Magnetic Resonance Imaging
Male
Middle Aged
MRI
Muscle, Skeletal - pathology
Muscular Dystrophies, Limb-Girdle - diagnosis
Muscular Dystrophies, Limb-Girdle - genetics
Mutation - genetics
Neurology
Young Adult
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Summary:Abstract Limb girdle muscular dystrophy type 2L (LGMD2L) is an adult-onset slowly progressive muscular dystrophy associated with recessive mutations in the ANO5 gene. We analysed the muscle MRI pattern in a cohort of 25 LGMD2L patients in order to understand the extent and progression of muscle pathology in LGM2L and assess if muscle MRI might help in the diagnostic work-up of these patients. Our results showed a homogeneous pattern of muscle pathology on muscle MRI, with a predominant involvement of the posterior compartment muscles in both the thighs and calves. The muscles of the anterior compartments in the leg together with the sartorius and gracilis muscles were best preserved, which partially overlaps with patterns observed for other recessive LGMDs. Muscle MRI therefore does not appear to be as useful in the diagnostic work up of LGMD2L as for other neuromuscular diseases, such as Bethlem myopathy or myofibrillar myopathy.
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2012.05.012