Clinical and neuroimaging findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutations

详细信息    查看全文

• 作者：Elizabeth Harris^a ; Meriel McEntagart^b ; Ana Topf^a ; Hanns Lochm&uuml ; ller^a ; Kate Bushby^a ; Caroline Sewry^c ; ^d ; Volker Straub^a ; ^{volker.straub@newcastle.ac.uk}
• 关键词：Limb girdle muscular dystrophy ; Laminin α2 ; Collagen VI ; Muscle MRI
• 刊名：Neuromuscular Disorders
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：27
• 期：2
• 页码：170-174
• 全文大小：1128 K
• 卷排序：27

文摘

Two brothers with LAMA2-related limb girdle muscular dystrophy were diagnosed by exome. Laminin α2 was partially deficient on skin biopsy immunoanalysis. Muscle MRI showed concentric atrophy, similar to pattern seen in Bethlem Myopathy. Brain MRI showed globi pallidi signal hyperintensity and diffuse white matter changes. One patient had concomitant dilated cardiomyopathy.