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Isolated girdle weakness: Expansion of the phenotypic spectrum of the MERRF 8344A>G mutation of mitochondrial DNA [Debilidad aislada de cinturas: Ampliación del espectro fenotípico de la mutación merrf 8344A>G del ADN mitocondrial]

Lookup NU author(s): Professor Jordi Diaz ManeraORCiD


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© 2018 Revista de Neurología.Introduction. The differential diagnosis of diseases that are accompanied by adult-onset girdle weakness is broad and includes motor neurone, neuromuscular junction or muscular diseases. The 8344A>G mutation of the MTTK gene of mitochondrial DNA usually presents with involvement of multiple organs associated (or not) with girdle weakness. To date no cases of isolated girdle weakness have been reported as the presenting symptom of this mutation. Case report. A 57-year-old male, with a four-year history of isolated clinical signs of progressive girdle weakness. He is the brother of a 59-year-old woman with the same clinical features. Muscular biopsy played a decisive role in the diagnosis and was characteristic of mitochondrial myopathy. The genetic analysis revealed the 8344A>G mutation of the MTTK gene of mitochondrial DNA. Conclusions. The 8344A>G mutation of mitochondrial DNA can be associated with clinical signs and symptoms of adultonset girdle weakness, and must therefore be included as part of its differential diagnosis.

Publication metadata

Author(s): Erdocia-Goni A, Alonso-Jimenez A, Ramon-Carbajo C, Garcia-Arumi E, Casquero P, Gallardo E, Diaz-Manera J

Publication type: Article

Publication status: Published

Journal: Revista de Neurologia

Year: 2018

Volume: 66

Issue: 8

Pages: 268-270

Online publication date: 16/04/2018

Acceptance date: 02/04/2018

ISSN (print): 0210-0010

ISSN (electronic): 1576-6578

Publisher: Viguera Editores


PubMed id: 29645070