Clinical features and laboratory characterization of patients with mitochondrial diseases
| Patient No. | Sex/Age (y) | Clinical Features | Muscle Biopsy | mtDNA | Diagnosis | Disease Duration (y) |
|---|---|---|---|---|---|---|
| 1 | M/26 | EO, Pt, T, D | No RRF, COX- | sd (7700bp) | PEO+ | 12 |
| 2 | F/56 | EO, Pt | RRF, COX- | md* | AD-PEO | 4 |
| 3 | F/37 | EO, Pt, Ps | n.p. | n.p. | AD-PEO | 7 |
| 4 | F/47 | W, EO, Pt | RRF, COX- | No mutation detected | PEO | 12 |
| 5 | F/71 | W, EO, Hy | RRF, COX- | sd (3500 bp) | PEO+ | 21 |
| 6 | F/58 | EO, A, Hy | RRF, COX- | md | EM | 3 |
| 7 | M/57 | A, S, Lip | RRF, COX- | md | EM | 14 |
| 8 | M/43 | W, Pt, D, P | RRF, COX- | md | EM | 13 |
| 9 | F/49 | EO, Pt, A | RRF, COX- | md | EM | 10 |
| 10 | F/22 | Pt, Se | RRF, COX- | pm 3243 | MELAS | 18 |
| 11 | M/29 | EO, Pt, W, A, Hy | RRF, COX- | sd (5500 bp) | KSS | 15 |
| 12 | F/11 | EO | n.p. | pm 5814 (lymphocytes) | PEO+ | 6 |
| 13 | M/2 | A, MR | n.p. | pm 8993 | NARP | 2 |
| 14 | M/18 mo | Hp, W | Co II-IIId† | n.p. | Leigh | 1 |
| 15 | M/6 | Se | n.p. | pm 3243 (lymphocytes) | MELAS | 10 mo |
Note.—A indicates ataxia; AD-PEO, autosomal dominant progressive external ophthalmoplegia; Co II-IIId, complex II-III deficiency; Cox-, citochrome oxidase negative fibers; D, diabetes; Dy, diplopia; EM, encephalomyopathy; EO, external ophthalmoplegia; Hp, hypotonia; Hy, hypoacusia; KSS, Kearns-Sayre syndrome; Lip, lipomatosis; md, multiple deletion; MELAS, mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes; MR, mental retardation; n.p., not performed; NARP, neuropathy, ataxia, retinitis pigmentosa; P, parkinsonism; pd, point deletion; PEO, progressive external ophthalmoplegia; Ps, psychosis; Pt, eyelid ptosis; RRF, ragged red fibers; S, spasticity; sd, single deletion; Se, seizures; T, tremor; W, muscle weakness.
* Detected in family members.
† Assessed biochemically.