Rolled cake sign in calpain related myopathies

Buendía, Jesús; Paipa, Andrés; Dominguez, R.; Verges, E.; Garcia, Erika Kristina Incerpi; López, Juana María Sánchez; Fuentes, F.; Munell, Francina; Olivé, Montse; Montañez, Alicia

doi:10.1016/j.nmd.2016.06.057

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2019

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“…A unique variant in COL6A2 (c. 2107 A>C p.T703P) was found to fully segregate with the phenotype in this family. Pathogenicity of the mutation is supported by the unusual and highly characteristic muscle MRI pattern, which is almost exclusively seen in collagenopathies [ 2 ], although it has also been rarely reported in calpainopathy [ 6 ]. Double immunofluorescence of collagen VI and merosin did not show obvious abnormalities, which is in line with previous reports in milder dominantly inherited collagenopathies, such as Bethlem myopathy.…”

Section: Discussionmentioning

confidence: 99%

A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy

et al. 2019

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Limb-girdle muscular dystrophies (LGMD) are genetic disorders characterized by weakness of predominantly proximal limb and trunk muscles due to progressive loss of muscle tissue. Collagen VI-related muscular dystrophies usually display more generalized muscle involvement combined with contractures and/or hyperlaxity of distal finger joints. LGMD-like phenotype of collagenopathy has only rarely been described and as reported is usually of childhood onset. We identified a Finnish family with COL6A2 -related LGMD with autosomal dominant inheritance and very late onset at 40–60 years of age. Since the mutation was previously unreported, the pathognomonic findings on muscle MRI were the decisive clue for the correct diagnosis.

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Section: Discussionmentioning

confidence: 99%