A family with limb girdle muscular dystrophy type 1B and multiple exostoses.

DISCUSSION: The clinical, genetic, and muscle biopsy findings suggest that both mutations are pathogenic. The EXT2 mutation was most likely responsible for the multiple exostoses phenotype in mother and son, whereas the myopathy was probably caused by a combined effect of the LMNA and EXT2 mutations. . PMID: 31296281 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/31296281?dopt=Abstract

Source: Clinical Neuropathology - July 11, 2019 Category: Pathology Authors: Romeike BFM, Becker K, Großkreutz J, Schulz S, Weis J, Cirak S Tags: Clin Neuropathol Source Type: research