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

Revista de neurologia - 16 Apr 2018

Erdocia-Goni A, Alonso-Jimenez A, Ramon-Carbajo C, Garcia-Arumi E, Casquero P, Gallardo E, Diaz-Manera J

Abstract excerpt

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...

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PMID: 29645070

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