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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.
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
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