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Collagen type VI-related myopathy
  1. Paulo Victor Sgobbi de Souza,
  2. Thiago Bortholin,
  3. Jhonatan Rafael Siqueira Pinheiro,
  4. Fernando George Monteiro Naylor,
  5. Wladimir Bocca Vieira de Rezende Pinto,
  6. Acary Souza Bulle Oliveira
  1. Department of Neurology and Neurosurgery, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil
  1. Correspondence to Dr Paulo Victor Sgobbi de Souza, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo (UNIFESP), Rua Estado de Israel, 899, Vila Clementino, São Paulo, SP 04022-002, Brazil; pvsgobbi{at}gmail.com

http://dx.doi.org/10.1136/practneurol-2017-001661

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    A 15-year-old Brazilian boy presented with slowly progressive infancy-onset global amyotrophy and limb-girdle pattern of weakness. His perinatal history and prior motor milestones were normal, and there was no relevant family history. On examination, he had a scoliosis, multiple joint contractures with distal hypermobility, follicular hyperkeratosis and keloid scar formation (figure 1).

    Figure 1

    Examination findings in collagen type VI-related myopathies. (A) Marfanoid habitus and marked proximal and distal upper limb muscle atrophy with multiple …

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    Footnotes

    • Contributors PVSS: case report project: conception, organisation and execution; manuscript: writing of the first draft. TB, JRSP: case report project: conception and organisation; manuscript: writing of the first draft. FGMN: case report project: conception and organisation; manuscript: writing of the first draft and review and critique. WBVRP: case report project: conception, organisation and execution; manuscript: writing of the first draft and review and critique. ASBO: case report project: organisation; manuscript: review and critique.

    • Competing interests None declared.

    • Patient consent Parental/guardian consent obtained.

    • Ethics approval This study was approved by Comitê de Ética em Pesquisa—HSP/UNIFESP.

    • Provenance and peer review Not commissioned; externally peer reviewed. This paper was reviewed by Michael Rose, London, UK.

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