Muscle MRI findings in limb girdle muscular dystrophy type 2L

作者：Sarkozy Anna; Deschauer Marcus; Carlier Robert Yves; Schrank Bertold; Seeger Juergen; Walter Maggie C; Schoser Benedikt; Reilich Peter; Leturq France; Radunovic Aleksandar; Behin Anthony; Laforet Pascal; Eymard Bruno; Schreiber Herbert; Hicks Debbie; Vaidya Sujit S; Glaeser Dieter; Carlier Pierre G; Bushby Kate; Lochmueller Hanns; Straub Volker^*

来源：Neuromuscular Disorders, 2012, 22: S122-S129.

DOI：10.1016/j.nmd.2012.05.012

• ANO5
• MRI
• LGM2L

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.

• 出版日期2012-10-1
• 单位中国地震局