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. 2011 Dec 20;135(1):62–71. doi: 10.1093/brain/awr326

Table 1.

Clinical and molecular characterization of the patient cohort

Patient Sex Age of disease onset (years) Age at study (years) Primary clinical features
 Muscle histochemistry
 Molecular defects
 Nerve conduction studies
CPEO Ptosis Peripheral neuropathy Ataxia Dysarthria Epilepsy COX- deficient fibres (%) RRF (%) POLG mutation Presence of mitochondrial DNA deletions NCS interpretation EMG
1 M 17 42 + + + 20 20 p.A467T; p.R1096C Confirmed Sensory and motor neuronopathy Distal and proximal neurogenic change
2 M 18 36 + + + 10 5 p.A467T; p.A467T Confirmed Severe sensory and moderate motor neuronopathy. Proximal myopathy. Distal neurogenic change, proximal myopathy
3a M 18 50 + + + + 20 p.A467T; p.X1240Q Confirmed Severe sensory neuronopathy Not investigated
4 F 22 61 + + + + + 6 p.A862T; p.R1047W Confirmed Axonal sensory neuropathy / neuronopathy Distal and proximal neurogenic change
5 M 25 49 + + + + 16 5 p.W748S; p.R1096C Confirmed Severe sensory and moderate motor neuronopathy Distal neurogenic change, proximal myopathy
6 M 26 36 + + + + 3 p.G746S; p.G484S Confirmed Severe sensory and moderate motor neuronopathy Distal and proximal neurogenic change
7 M 34 47 + + + 5 5 p.A467T; p.W748S Confirmed Severe sensory and moderate motor neuronopathy Distal neurogenic change, proximal myopathy
8 F 41 42 + + + + 25 5 p.A467T; p.X1240Q Confirmed Sensory and motor neuronopathy Distal neurogenic change
9 M 41 44 + + + 10 p.A467T; p.A467T Confirmed Severe sensory and moderate motor neuronopathy. Proximal myopathy. Distal and proximal neurogenic change
10 F 44 48 + + + + 5 p.A467T; p.W748S Confirmed Severe sensory, moderate motor axonal neuronopathy Distal neurogenic, proximal myopathy
11 F 16 18 + + + 2 p.A467T; p.W748S Confirmed Moderate sensory neuronopathy Normal
12a F 20 + + + p.A467T; p.W748S Confirmed Not investigated. Not investigated.

a The cases used for post-mortem neuropathological investigation.

CPEO = Chronic Progressive External Ophthalmoplegia; NCS = nerve conduction study; RRF = ragged-red fibres.