Broad clinical spectrum observed in patients with scapuloperoneal spinal muscular atrophy (SPSMA) caused by an c.806G > A (p. Arg269His) mutation in the TRPV4 gene
Maria Jędrzejowska(Children's Memorial Health Institute), Monika Goś(Gdańsk Medical University), Aleksandra Jezela‐Stanek, Paulina Halat(Children's Memorial Health Institute), Piotr Gasperowicz(Medical University of Warsaw), Elżbieta Ciara(Children's Memorial Health Institute), Anna Kostera‐Pruszczyk(Medical University of Warsaw), Małgorzata Rydzanicz(Medical University of Warsaw), Emilia Dębek(Mother and Child Foundation)
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