Article
A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation.
Neuromuscular disorders : NMD - 1 Mar 2021
Rocha Maria L, Dittmayer Carsten, Uruha Akinori, Korinth Dirk, Chaoui Rabih, Schlembach Dietmar, Rossi Rainer, Pelin Katarina, Suk Eun Kyung, Schmid Simone, Goebel Hans H, Schuelke Markus, Stenzel Werner, Englert Benjamin
Abstract excerpt
Nemaline myopathies are a clinically and genetically heterogeneous group of congenital myopathies, mainly characterized by muscle weakness, hypotonia and respiratory insufficiency. Here, we report a male foetus of consanguineous parents with a severe congenital syndrome characterized by arthrogryposis detected at 13 weeks of gestation. We describe severe complex dysmorphic facial and musculoskeletal features by...
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