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

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.