title: 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 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.
authors.affiliation: Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.
authors.forename: Anna
authors.initials: A
authors.lastname: Sarkozy
authors.forename: Marcus
authors.initials: M
authors.lastname: Deschauer
authors.forename: Robert-Yves
authors.initials: RY
authors.lastname: Carlier
authors.forename: Bertold
authors.initials: B
authors.lastname: Schrank
authors.forename: Jürgen
authors.initials: J
authors.lastname: Seeger
authors.forename: Maggie C
authors.initials: MC
authors.lastname: Walter
authors.forename: Benedikt
authors.initials: B
authors.lastname: Schoser
authors.forename: Peter
authors.initials: P
authors.lastname: Reilich
authors.forename: France
authors.initials: F
authors.lastname: Leturq
authors.forename: Aleksandar
authors.initials: A
authors.lastname: Radunovic
authors.forename: Anthony
authors.initials: A
authors.lastname: Behin
authors.forename: Pascal
authors.initials: P
authors.lastname: Laforet
authors.forename: Bruno
authors.initials: B
authors.lastname: Eymard
authors.forename: Herbert
authors.initials: H
authors.lastname: Schreiber
authors.forename: Debbie
authors.initials: D
authors.lastname: Hicks
authors.forename: Sujit S
authors.initials: SS
authors.lastname: Vaidya
authors.forename: Dieter
authors.initials: D
authors.lastname: Gläser
authors.forename: Pierre G
authors.initials: PG
authors.lastname: Carlier
authors.forename: Kate
authors.initials: K
authors.lastname: Bushby
authors.forename: Hanns
authors.initials: H
authors.lastname: Lochmüller
authors.forename: Volker
authors.initials: V
authors.lastname: Straub
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000075368:Anoctamins; D018118:Chloride Channels / Q000235:genetics; D005260:Female; D006801:Humans; D035002:Lower Extremity / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology*; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation / Q000235:genetics; D055815:Young Adult
chemical_list: C547813:ANO5 protein, human; D000075368:Anoctamins; D018118:Chloride Channels