| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 3084366 | Pediatric Neurology | 2016 | 6 Pages |
Abstract
X-linked myotubular myopathy is rare in the Brazilian population. Necklace fibers might be more prevalent in this condition than previously reported. Direct Sanger sequencing of MTM1 on clinical suspicion avoids the need of a muscle biopsy.
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Authors
Osorio MD, PhD, Marina Rodrigues e Silva, Cristiane de Araújo MD, Acary de Souza Bulle MD, PhD, Umbertina Conti MD, PhD, Valérie PhD, João Bosco PhD, Jocelyn PhD, Edmar MD, PhD,