[Isolated girdle weakness: expansion of the phenotypic spectrum of the MERRF 8344A > G mutation of mitochondrial DNA].

CONCLUSIONS: The 8344A>G mutation of mitochondrial DNA can be associated with clinical signs and symptoms of adult-onset girdle weakness, and must therefore be included as part of its differential diagnosis.
PMID: 29645070 [PubMed - in process]

Source: Revista de Neurologia - April 14, 2018 Category: Neurology Authors: Erdocia-Goni A, Alonso-Jimenez A, Ramon-Carbajo C, Garcia-Arumi E, Casquero P, Gallardo E, Diaz-Manera J Tags: Rev Neurol Source Type: research