Clinical features were characterized as dysarthria, dysphagia, external ophthalmoplegia, limb weakness, hypophrenia, deafness, and impaired vision.
This family manifested dysarthria, dysphagia, external ophthalmoplegia, limb weakness, hypophrenia, deafness, and visual deterioration, in an autosomal dominant inheritance.
Clinical symptoms were characterized by dysarthria, dysphagia, external ophthalmoplegia, limb weakness, hypophrenia, deafness, and visual deterioration.
Here, we described a family of autosomal dominant myopathy with rimmed vacuole, characterized by hypophrenia, dysarthria, dysphagia, external ophthalmoplegia, limb weakness, deafness, and visual deterioration.