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A case report of a family with overlapping features of autosomal dominant febrile seizures and GEFS+

✍ Scribed by Neeti Hindocha; Rima Nabbout; Frances Elmslie; Andrew Makoff; Ammar Al-Chalabi; Lina Nashef

Book ID
109111029
Publisher
Wiley (Blackwell Publishing)
Year
2009
Tongue
English
Weight
247 KB
Volume
50
Category
Article
ISSN
0013-9580

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Autosomal dominant centronuclear myopath
Autosomal dominant centronuclear myopathy: Report of a new family with clinical features simulating facioscapulohumeral syndrome
✍ Kevin J. Felice; Margaret L. Grunnet πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 304 KB πŸ‘ 2 views

The centronuclear myopathies are a clinically and genetically heterogeneous group of disorders which share similar histological features on muscle biopsy. The familial cases have been classified genetically as X-linked or autosomal in inheritance. The autosomal forms usually have a later onset and m