A 29-year-old female with progressive myoclonus and cognitive decline

D Taylor; H R Haynes; A Graham; S Gerhand; K M Kurian

doi:10.1155/2013/125672

A 29-year-old female with progressive myoclonus and cognitive decline

D Taylor, H R Haynes, A Graham, S Gerhand, K M Kurian

Research output: Contribution to journal › Article (Academic Journal) › peer-review

Abstract

Myoclonic epilepsy with red ragged fibres (MERRF) is a rare mitochondrial disorder presenting with progressive myoclonus, epilepsy, and cognitive decline. Here, the authors present a case of a 29-year-old lady presenting with myoclonus and describe the subsequent investigations that led to a diagnosis of MERRF. In addition, we examine her cognitive decline over a 9-year period, demonstrating a feature commonly seen in mitochondrial cytopathies.

Original language	English
Pages (from-to)	125672
Journal	Case Reports in Neurological Medicine
Volume	2013
DOIs	https://doi.org/10.1155/2013/125672
Publication status	Published - 2013

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title = "A 29-year-old female with progressive myoclonus and cognitive decline",

abstract = "Myoclonic epilepsy with red ragged fibres (MERRF) is a rare mitochondrial disorder presenting with progressive myoclonus, epilepsy, and cognitive decline. Here, the authors present a case of a 29-year-old lady presenting with myoclonus and describe the subsequent investigations that led to a diagnosis of MERRF. In addition, we examine her cognitive decline over a 9-year period, demonstrating a feature commonly seen in mitochondrial cytopathies.",

author = "D Taylor and Haynes, {H R} and A Graham and S Gerhand and Kurian, {K M}",

year = "2013",

doi = "10.1155/2013/125672",

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journal = "Case Reports in Neurological Medicine",

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AU - Taylor, D

AU - Haynes, H R

AU - Graham, A

AU - Gerhand, S

AU - Kurian, K M

PY - 2013

Y1 - 2013

N2 - Myoclonic epilepsy with red ragged fibres (MERRF) is a rare mitochondrial disorder presenting with progressive myoclonus, epilepsy, and cognitive decline. Here, the authors present a case of a 29-year-old lady presenting with myoclonus and describe the subsequent investigations that led to a diagnosis of MERRF. In addition, we examine her cognitive decline over a 9-year period, demonstrating a feature commonly seen in mitochondrial cytopathies.

AB - Myoclonic epilepsy with red ragged fibres (MERRF) is a rare mitochondrial disorder presenting with progressive myoclonus, epilepsy, and cognitive decline. Here, the authors present a case of a 29-year-old lady presenting with myoclonus and describe the subsequent investigations that led to a diagnosis of MERRF. In addition, we examine her cognitive decline over a 9-year period, demonstrating a feature commonly seen in mitochondrial cytopathies.

U2 - 10.1155/2013/125672

DO - 10.1155/2013/125672

M3 - Article (Academic Journal)

C2 - 23662223

SN - 2090-6668

VL - 2013

SP - 125672

JO - Case Reports in Neurological Medicine

JF - Case Reports in Neurological Medicine

ER -

A 29-year-old female with progressive myoclonus and cognitive decline

Abstract

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