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Table 1 Clinical and molecular characteristics mtDNA mutation carriers

From: Healthy, mtDNA-mutation free mesoangioblasts from mtDNA patients qualify for autologous therapy

Patient IDAgeSexmtDNA mutation% sk. muscle% MABSClinical features
M1a37MtRNA Lys m.8363G>A46< 1Mild EI, cephalia
M8a40F516.0EI, ataxia, dysarthria
M18a35F8778Spinocerebellar ataxia with dysarthria
M20a47F9082EI, axonal polyneuropathy, dysarthria
M5b27FtRNA Leu m.3243A>G409.4EI, restless legs, cephalia (migraine like)
M6b21M933.4MELAS, bradyphrenia, mental deterioration
M9c59F151.6DM, hearing loss, cerebellar ataxia, slight mental deterioration
M10c33F28< 1Discrete cerebellar ataxia
M13261F629.1Cerebellar ataxia, hemianopsia, CVA hemiparesis right, motor aphasia, DM, EI, seizures
M13338F735.5DM, hearing aid, CMP, EI, migraine-like headaches, proximal weakness, reactive depression
M13758M8022Deafness, EI, CVA, PNP, DM, hypertension, Dupuytren
M1943F7964MIDD, anorexia
M3240M8067MIDD, nephropathy, myopathy, HCM
M222FtRNA Leu
m.3271 T>C
10096Myopathy, EI
M11d11FtRNA Leu
m.3291 T>C
9473EI, CMP, myopathy
M17d34F621.6EI, hearing loss, mental retardation
M34 f63MND1 m.11778G>A8968LHON
M37f69F5357No complaints
M2858M4977 bp deletionND< 1CPEO, myopathy, glaucoma, hearing loss, hypoventilation
M2357F4977 bp deletion41< 1CPEO/KSS, myopathy, swallowing problems, CMP, EI, PNP
M13460F4977 bp deletion60< 1CPEO, proximal discrete myopathy
M3366F4977 bp deletion45–50< 1CPEO, myopathy
M2421F6 kb deletionND< 1CPEO, EI, dyspepsia, dysphagia
M0742M3.5 kb deletion60–70< 1CPEO/KSS, opticopathy, axonal motor polyneuropathy
  1. Age age at muscle biopsy, % sk. muscle mean mtDNA mutation load in skeletal muscle, % MABs mean mtDNA mutation load in mesoangioblasts, DM diabetes mellitus, EI exercise intolerance, MELAS mitochondrial encephalopathy with lactic acidosis and stroke-like episodes, MIDD maternally inherited diabetes and deafness, HCM hypertrophic cardiomyopathy, PNP polyneuropathy, CVA cerebrovascular accident, LHON Leber’s Hereditary Optic Neuropathy, CPEO chronic progressive external ophthalmology, KSS Kearns-Sayre syndrome, CMP cardiomyopathy, ND not determined
  2. aM8 and M20 are siblings and cousins of M1 and M18
  3. bM5 and M6 are siblings
  4. cM9 is mother of M10
  5. dM17 is mother of M11
  6. eM22 is mother of M02
  7. fM34 and M37 are siblings