Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB. Issue 12 (30th July 2020)

• Record Type: Journal Article
• Authors: Maia, Nuno; Soares, Ana Rita; Fortuna, Ana Maria; Marques, Isabel; Gonçalves, Ana; Santos, Rosário; Melo Pires, Manuel; de Brouwer, Arjan P. M.; Jorge, Paula
• Is Part Of: Clinical case reports. Volume 8:Issue 12(2020)
• Page Start: 2476
• Page End: 2482
• Publication Date: 2020-07-30
• Subjects: homozygosity mapping -- MYO7A -- NEB -- Nebulin‐associated myopathy -- Usher syndrome; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.3146
• Languages: English
• ISSNs: 2050-0904

Abstract

Abstract: In a patient with Usher syndrome and atypical muscle complaints, we have identified two separate variants in MYO7A and NEB genes by exome sequencing. The homozygous variants in these two recessive genes could explain the full phenotype of our patient. Abstract : In a patient with Usher syndrome and atypical muscle complaints, we have identified two separate variants in MYO7A and NEB genes by exome sequencing. The homozygous variants in these two recessive genes could explain the full phenotype of our patient.