Journal
CLINICAL GENETICS
Volume 93, Issue 6, Pages 1234-1239Publisher
WILEY
DOI: 10.1111/cge.13240
Keywords
CFL2; cofilin-2; congenital myopathy; myofibrillar myopathy; nemaline myopathy; NGS; sarcoplasmic aggregates
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Funding
- Fondazione Telethon [GUP08005]
- Fondazione Bambino Gesu Vite coraggiose
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Congenital myopathies (CMs) caused by mutation in cofilin-2 gene (CFL2) show phenotypic heterogeneity ranging from early-onset and rapid progressive forms to milder myopathy. Muscle histology is also heterogeneous showing rods and/or myofibrillar changes. Here, we report on three new cases, from two unrelated families, of severe CM related to novel homozygous or compound heterozygous loss-of-function mutations in CFL2. Peculiar histopathological changes showed nemaline bodies and thin filaments accumulations together to myofibrillar changes, which were evocative of the muscle findings observed in Cfl2(-/-) knockout mouse model.
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