Mulibrey nanism
Systemic/MultisystemOMIM 605073
W
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Overview
From WUSTL Neuromuscular● Mutations Frameshift, deletion or insertion Produce truncated protein Disease category: Peroxisomal biogenesis disorder Protein Zinc finger protein: RING-B-box-coiled-coil (RBCC) family Contains TRAF domain: Interacts with other proteins Coiled-coil domain: Homo-oligomerization; Subcellular localization E3 ubiquitin-protein ligase Location: Peroxisomal; Granular cytoplasmic Mutant proteins may have defective targeting or function Epidemiology Most common in Finland Clinical: Muscle-Liver-Brain-Eye Nanism Onset: Birth (Prenatal) Muscle: Hypotonia 80% Cardiac: Constrictive pericarditis Skeleta
OMIM Entries
External Resources
Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.