Article
Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: a follow-up muscle MRI study.
Neuromuscular disorders : NMD - 1 Oct 2012
Mahjneh Ibrahim, Bashir Rumaisa, Kiuru-Enari Sari, Linssen Wim, Lamminen Antti, Visser Marianne de
Abstract excerpt
Anoctaminopathy is a new muscular dystrophy caused by mutations in the ANO5 gene. ANO5 mutations cause distal and proximal phenotypes. We report here a follow-up muscle MRI study on five patients affected by distal form of anoctaminopathy. T1 weighted scans showed subsequent involvement of gastrocnemius medialis and soleus, hip adductors, hamstrings, gastrocnemius lateralis and quadriceps muscles, and later on...
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