Table 1.

List of patients.

ID	Sex	Age of onset	Age of death	Severity	Transmission	Histological features	CK levels	Mutation	References
I	Female	Childhood	–	Intermediate	Sporadic	Several central nuclei	Normal	c.118G>T, p.(Gly40X)	Novel
II	Male	Birth	3 mo.	Severe	Sporadic	Small myofibers and a numerous fibers containing large, centrally located nuclei (75%)	Normal	c.1558C>T, p.(Arg520X)	Described (Ref. [23])
IIIa	Male	Birth	3 wks	Severe	Dominant/X-linked	More than 50% of fibers with myotubular appearance, marked predominance of type I fibers	Normal	c.1150C>T, p.(Gln384X)	Novel
IIIb	Female	Childhood	–	Mild	Few fibers with central nuclei marked predominance of type I fibers	Normal
IIIc	Female	40 yrs	–	Intermediate	Few fibers with central nuclei marked predominance of type I fibers , small type grouping	Normal
IV	Male	Birth	2 mo.	Severe	X-linked	Several central nuclei	n.a.	c.757C>T, p.(Arg253X)	Described (Refs. [24], [25])
V	Female	Infancy	–	Intermediate	Sporadic	Variability in fiber diameter with several central nuclei and necklace fibers	slightly elevated	c.1115T>A, p.(Leu372His)	Novel
VI	Male	Birth	n.a.	Severe	X-linked	n.a.	n.a.	Interstitial deletion at Xq28	Novel

n.a. = not available; mo. = months; wks = weeks; yrs = years.