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Rev Neurol. 2018 Apr 16;66(8):268-270.

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

[Article in Spanish; Abstract available in Spanish from the publisher]

Author information

1
Hospital San Pedro, Logrono, Espana.
2
Hospital de la Santa Creu i Sant Pau, 08025 Barcelona, Espana.
3
Hospital Universitario Central de Asturias, 33006 Oviedo, Espana.
4
Hospitals Vall d'Hebron, 08035 Barcelona, Espana.
5
Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER). ISCIII, Madrid, Espana.
6
Hospital General Mateu Orfila, Mao-Menorca, Espana.

Abstract

in English, Spanish

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 adult-onset girdle weakness, and must therefore be included as part of its differential diagnosis.

PMID:
29645070
[Indexed for MEDLINE]
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