Matrin3 myopathy: Distal and axial myopathy with pathology of the nucleus and the perinuclear region

Introduction: Recently it was shown, that a mutation in the MATR3 gene causes vocal cord and pharyngeal weakness with distal myopathy (VCPDM) in a North American and in a Bulgarian pedigree. MATR3 encodes Matrin 3, a component of the nuclear matrix. Vocal cord or swallowing dysfunction occurred in most cases of VCPDM. Detailed clinical descriptions or structural data of muscles were not given. Here we report on the clinical and myopathological data of the worldwide third family in detail. In four individuals of our German family (III3, IV2, IV3, V2, see pedigree. *: index patient, D: Diabetes mellitus) the same…