Clinical Study
Enzyme Histochemical Assessment of Mitochondrial Functions in Patients with Myopathic form of Limb-Girdle Syndrome
Table 1
Clinical, biochemical and electrophysiological characteristics of patients with limb-girdle muscle weakness.
| N | Age (years) | Sex | Duration of illness (months) | Pattern of weakness | Family history | Others | CPK (IU/mL) | EMG |
| (1) | 8 | M | 36 | Proximal | Of IGE (AD) | Ret pig | 75 | Myopathic | (2) | 14 | M | 96 | Proximal + distal | AR | Iliotibial contractures | 1243 | Myopathic, fibs | (3) | 33 | M | 120 | Proximal > distal | — | DCMP | 2439 | Myopathic | (4) | 20 | F | 60 | Proximal + distal | — | Ankle contractures Cramps, GTCS | 528 | Myopathic | (5) | 12 | F | 60 | Mild proximal | — | Pes cavus | 740 | Normal | (6) | 34 | F | 180 | Proximal + distal | — | Elbow knee ankle contract. | 179 | Myopathic | (7) | 16 | M | 108 | Proximal + distal | — | — | 1443 | Myopathic | (8) | 20 | M | 84 | Proximal > distal | — | Skin changes | 1441 | Myopathic | (9) | 58 | F | 24 | Proximal + distal + neck flexor | — | — | 600 | Myopathic, fibs, PSW | (10) | 48 | F | 120 | Proximal | AR | — | 1817 | Myopathic | (11) | 11 | M | 84 | Proximal > distal | — | Ichthyosis, hyperkeratotic skin, contractures b/l knee, elbow, ankle joints, hepatomegaly | 2500 | Myopathic | (12) | 35 | M | 36 | Proximal > distal, external ophthalmoplegia | AR | HOCM | 110 | Myopathic | (13) | 15 | F | 60 | Mild proximal + distal | — | Muscle cramps (rest) | 96 | Myopathic | (14) | 29 | F | 8 | Proximal > distal | — | — | 407 | Myopathic, PSW. Fibs | (15) | 24 | M | 5 | Proximal > distal | Type 2 DM in father | — | 2500 | Myopathic | (16) | 26 | F | 8 | Proximal > distal, bulbar | — | Recurrent oral ulcers | 191 | Myopathic RNS −ve | (17) | 45 | F | 4 | Proximal > distal | — | — | 1628 | Myopathic, PSW, Fibs | (18) | 37 | F | 12 | Proximal > distal | — | — | 1774 | Normal | (19) | 8 | F | 7 | Proximal > distal | — | — | 7128 | Myopathic | (20) | 55 | M | 10 | Proximal > distal | — | Chronic alcoholic and smoker, hypertension 1 year | 109 | Myopathic |
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AR—autosomal recessive, AD—autosomal dominant, CPK—creatine phosphokinase, DM—diabetes mellitus, DCMP—dilated cardiomyopathy, F—female, fibs—fibrillations, GTCS—generalized tonic-clonic seizures, IGE—idiopathic generalised epilepsy, M—male, PSW—positive sharp waves, RNS—repetitive nerve stimulation.
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