Table 2. Clinical features and laboratory findings in the patients with myopathy.

Patient	Sex	Current age (years)	Onset	CK	Weakness	Muscle biopsy findings	Motor function	Ocular	Scoliosis
Patient 1 (IV.15)	F	30	Birth	N	Face, Neck, limb girdle	Central nuclei	wheelchair-bound	–	Y
Patient 2 (V.28)	M	17	18 months	N	Face, Neck, limb girdle	FSV, IDN, EF	Walking	–	No
Patient 3 (V.31)	M	10	6 years	N	Face, Neck, limb girdle	FSV, IDN, EF	Walking	–	Y
Patient 4 (V.36)	M	9	4 years	N	Face, Neck, limb girdle	FSV, IDN, EF	Walking	–	No

F: female; M: male; N: normal; FSV: fiber-size variation; IDN: internally-displaced nuclei; EF: endomysial fibrosis; Y:yes; No: No.