Enzyme Histochemical Assessment of Mitochondrial Functions in Patients with Myopathic form of Limb-Girdle Syndrome

Table 3

Clinical, pathological and biochemical characteristics of patients with isolated mitochondrial myopathy with proven mitochondrial mutations.

	Age/ Sex	DOI	Limb weakness	Other features	Family history	EMG	Biochemical	Histopathology	Mutation
Yang et al. [4]	55/F	—	Mild	Severe respiratory dysfunction	—	Myopathic	—	RRF on MGT	m.A3243G tRNA (Leu(UUR))
Hirata et al. [5]	70/M	20 Y	Proximal	Hypertension, hyperlipidemia	Brother, son	Myopathic	CK 4–10X	RRF on MGT, COX deficient, RC enzymes reduced	A-G transition at np8291 and 9bp del
	64/M	1Y	Proximal	AMI	Brother of case 1	Myopathic	CK 4X	Same	Same
	38/M	3Y	Proximal	Subcutaneous; lipomas	Son of case 1	Myopathic	CK 2-3X	Same	Same
	71/F	3Y	Proximal	Hypothyroidism hyperlipidemia	Sister	—	CK 2X	Same	Same
	52/F	7Y	Proximal	—	Sister of case 4	—	CK 10X	Same	Same
	58/F	14Y	Proximal	—	—	—	CK 10X	Same	Same
	42/F	4Y	Proximal	—	—	—	CK 7X	Same	Same
Seneca et al. [6]	—/F	—	Exercise intolerance	—	Negative	—	—	RRF, RC enzymes I, IV reduced	m.A7526GtRNA (Asp)
Swalwell et al. [7]	46/F	18M	Proximal	Myalgia	Negative	Myopathic	CK 7X, Post ex Lactate 3X	RRF, COX negative fibers	m.5591 G > A tRNA(Ala)
Meulemans et al. [8]	48/F	—	Proximal	Facial weakness,; mild b/l ptosis	Short stature in mother	—	—	RRF on MGT, COX deficient fibers, RC enzymes normal	m.5888 insA & m. 14639 A > G
Gempel et al. [9]	34/F	2Y	Proximal	IDDM	Negative	Myopathic	CK 10 X Lactate N	RRF, COX negative, Mus CoQ ↓	ETFDH gene m.
	29/M	6M	Proximal	Scapular winging ↓DTR; b-n-	Consanguinity in parents	Myopathic	CK 10X Post ex lactate 10X	Same	Same
	13/M	—	Proximal	—	Consanguinity in parents	—	CK 20X	Same	Same
	17/F	—	Proximal	—	—	—	CK 8X	Same	Same
	12/F	—	Proximal	—	Sister	Normal	CK 40X	Same	Same
	—/F	—	Proximal	Myalgia	Sister of above case	—	—	Same	Same
Leshinsky-Silver et al. [10]	13/F	—	Proximal	—	—	—	CK 5X	Same	Same
	—/—	—	Mild weakness		—	—	—	RRF	H90N m. In TK2 gene

DOI—duration of illness, F—female, M—male, Y—years, M—months, CK—creatine kinase, X—times normal, RRF—ragged red fibers, COX—cytochrome C oxidase, MGT—modified Gomori Trichrome, m. —mutation.