Article
Intrafamilial variable hearing loss in TRPV4 induced spinal muscular atrophy.
The Annals of otology, rhinology, and laryngology - 1 Dec 2014
Oonk Anne M M, Ekker Merel S, Huygen Patrick L M, Kunst Henricus P M, Kremer Hannie, Schelhaas Jurgen J, Pennings Ronald J E
Abstract excerpt
OBJECTIVE: Mutations in the transient receptor potential vanilloid 4 gene (TRPV4) can induce a great diversity of neuropathies. Together with these neuropathies, hearing loss can occur. This study is focused on providing an audiometric phenotype description of a Dutch family with spinal muscular atrophy caused by a mutation in TRPV4. METHODS: A neurological examination was repeated and pure tone and speech...
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