Reply to: Double Trouble from POLG1 and CLCN1 Variants with Intrafamilial Phenotypic Heterogeneity

Reply to: Double trouble progressive external ophthalmoplegia and Huntington's disease

We read the letter by Finsterer and Zarrouk-Mahjoubb [1] about our paper “Anovelmitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease” [2]. We thank the colleagues for manifesting interest in our paper and expressing their opinion. However, we do not agree on the considerations in respect to the clinical condition affecting...

Double reflux: double trouble

Double vision: double trouble.

To cite: Kesav P, Muthu V, Khurana D. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2014207347 DESCRIPTION A 43-year-old smoker presented with painless binocular diplopia and numbness in the left frontotemporal region of 4 weeks duration. Physical examination revealed non-tender bony swelling in the left zygomaticotemporal region with posterior cervical lymphade...

The trouble with seeing double

[1] The recently discovered phase transition for (Mg,Fe)SiO3 from perovskite to post-perovskite structure for pressure-temperature conditions in the lowermost mantle provides a plausible mechanism to explain a several percent shear velocity increase detected at the top of the D00 region in many regions. The phase transition has a large positive Clapeyron slope, and given the likely presence of ...

Intrafamilial phenotypic heterogeneity in a Taiwanese family with a MAPT p.R5H mutation: a case report and literature review

BACKGROUND Frontotemporal degeneration (FTD) is a clinically and genetically heterogeneous neurodegenerative disorder characterized by deficits in executive function that frequently overlaps with parkinsonism and motor neuron disorders. Several genes have been identified to cause autosomal dominant forms of FTD, including the gene coding for the protein associated with microtubule tau (MAPT). W...