Ontology highlight
ABSTRACT:
SUBMITTER: Mroczek M
PROVIDER: S-EPMC7397187 | biostudies-literature | 2020 Jun
REPOSITORIES: biostudies-literature
Mroczek Magdalena M Durmus Hacer H Töpf Ana A Parman Yesim Y Straub Volker V
Genes 20200627 7
We identified the known c.1_9del mutation in the <i>PLEC</i> gene in four unrelated females from consanguineous families of Turkish origin. All individuals presented with slowly progressive limb-girdle weakness without any dermatological findings, and dystrophic changes observed in their muscle biopsies. Additionally, the neurological examination revealed ptosis, facial weakness, fatigability, and muscle cramps in all four cases. In two patients, repetitive nerve stimulation showed a borderline ...[more]