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