BACKGROUND: Mitochondrial disease can manifest as @entity347 , often with @entity51 . @entity6447 in isolation or in combination with other features can result from @entity2383 yet genetic testing using blood DNA is not sufficient to exclude this as a cause of @entity2055 . Muscle biopsy is a useful diagnostic tool for @entity1 with @entity2055 suspected of @entity2383 . Our aim was to determine specific @entity1 selection criteria for muscle biopsy to see how frequent mitochondrial mutations are responsible for progressive @entity2055 . We performed a two centre retrospective review of @entity1 with unexplained progressive @entity2055 who underwent muscle biopsy for suspected @entity2383 between 2004 and 2014 (Sheffield and Newcastle Ataxia Centres). RESULTS: A total of 126 @entity1 were identified; 26 assessed in Newcastle and 100 in Sheffield. Twenty-four @entity1 had @entity2055 had @entity2055 with additional features. The total number of @entity1 with histologically suspected and/or genetically confirmed @entity2383 was 29/126 (23  %). CONCLUSIONS: A large proportion of @entity1 (23  %) with progressive @entity2055 who underwent muscle biopsy were found to have features of @entity2383 , with molecular confirmation in some. Muscle biopsy is a helpful diagnostic tool for @entity2383 in @entity1 with progressive @entity2055 .

Mitochondrial pathology in XXXX .

@entity1 :: ('9606', 'Species') :: ['patients', 'patient'] @entity347 :: ('MESH:D019965', 'Disease') :: ['multi-organ disorder'] @entity51 :: ('MESH:D009461', 'Disease') :: ['neurological dysfunction'] @entity6447 :: ('MESH:D002524', 'Disease') :: ['Cerebellar ataxia'] @entity2055 :: ('MESH:D001259', 'Disease') :: ['pure ataxia and 102', 'ataxia'] @entity2383 :: ('MESH:D028361', 'Disease') :: ['mitochondrial disease', 'mitochondrial dysfunction']
@entity6447 :: (MESH:D002524,Disease) :: ['progressive cerebellar ataxia']
