Ontology highlight
ABSTRACT:
SUBMITTER: Arif B
PROVIDER: S-EPMC7554104 | biostudies-literature | 2020 Nov
REPOSITORIES: biostudies-literature
Arif Beenish B Rasheed Arisha A Kumar Kishore R KR Fatima Amara A Abbas Ghazanfar G Wohler Elizabeth E Sobriera Nara N Lohmann Katja K Naz Sadaf S
European journal of medical genetics 20200818 11
Mutations in the gene kyphoscoliosis peptidase (KY) are known to cause myofibrillar myopathy-7 and hereditary spastic paraplegia. We investigated the genetic cause of a complex neurological phenotype in a consanguineous Pakistani family with four affected members, manifesting lower limb spasticity and weakness, toe walking, pes equinovarus, and a speech disorder. Genome-wide linkage analysis with microsatellite markers delineated chromosome 3q22.2-q24 harboring the disease gene. Whole exome sequ ...[more]