Table 1

HVS-I haplotypes in the six families analysed. Relevant information on % of deleted mtDNA, extent of the deleted region, and clinical presentation is also given

Family	Clinical presentation	Tissue	Deleted mtDNA	Deletion extent	HVS-I haplotype
P1	Pearson syndrome	Lymphocytes	90%	8484–13460	239G 256 311
M1					239G 256 311
F1					069 097G 104A 126 261

P2	Villous atrophy +	Muscle	90%	10665–14856	CRS
M2	encephalomyopathy				CRS
F2					CRS

P3	Villous atrophy +	Lymphocytes	30%	10744–14124	291
M3	encephalomyopathy				291
F3					224 270

P4	Progressive	Lymphocytes	90%	(Multiple deletions) 7845–15761, 7931–15761, 7619–15032, 9844–16064, 9966–15801		126 193 278
M4	encephalomyopathy					126 193 278
F4						298 311

P5	Pearson syndrome	Bone marrow	80%	5793–12767	069 126 145 222 261
M5					069 126 145 222 261
F5					069 126 145 222 261

P6	Pearson syndrome	Lymphocytes	85%	8484–13460	224 311 362
M6					224 311 362
F6					192 224 311