Key result
A previously undescribed congenital myopathy with dominant inheritance and selective type II muscle fiber atrophy was identified in a Norwegian family.
Case Report (n=6)
Describes a potentially new dominantly inherited congenital myopathy characterized by selective type II fibre atrophy.
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Extends congenital myopathy spectrum; leaves open genetic basis and validation in larger cohorts.
UNLABELLED: A 6-y-old boy presented with a mild, and apparently non-progressive, congenital myopathy, primarily affecting explosive movements such as running and jumping. Five other cases, spanning four generations, were identified in his family. A dominant inheritance pattern was suggested. Quadriceps muscle histology showed a selective type II fibre atrophy, which is otherwise considered a non-specific change associated with a number of conditions. CONCLUSION: A Norwegian boy with an inherited muscle weakness is presented. Based on clinical and laboratory investigations, and in light of the inheritance pattern, a previously undescribed congenital myopathy is suggested.
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Aurivillius et al. (2001) conducted a case report in Congenital myopathy (n=6). A previously undescribed congenital myopathy with dominant inheritance and selective type II muscle fiber atrophy was identified in a Norwegian family.
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