Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C)
Dysferlinopathy is an uncommon, progressive muscular dystrophy that has a wide phenotypic variability and primarily supportive management (Nguyen et al., 2007; Narayanaswami et al., 2014). Amyloid myopathy is a distinct, rare disorder that can present similarly to inflammatory myopathies and require...
| Main Authors: | , , , , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Hindawi Publishing Corporation
2016
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4853933/ |