_:vb50945041 . _:vb50945041 . _:vb50945041 "url:https://www.ncbi.nlm.nih.gov/pubmed/20037587"^^ . _:vb50945041 "url:https://www.ncbi.nlm.nih.gov/pubmed/1520078"^^ . _:vb50945041 . _:vb50945041 "A motor neuron disease characterized by progressive scapuloperoneal atrophy and weakness, laryngeal palsy, congenital absence of muscles and in some cases developmental abnormalities of the bones that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11."^^ . _:vb50945041 . _:vb50945041 .