Table 1.

Human subject and skeletal muscle biopsy characteristics

Patient IDa	Genetic status	Gender	Biopsy location	Age at biopsy (years)	Clinical formb	Age of onset	Maximal motor ability
na	Unaffected	M	Quad	9.3	—	—	Normal
na	Unaffected	M	Quad	32	—	—	Normal
na	Unaffected	M	Quad	45	—	—	Normal
na	Unaffected	M	Quad	45	—	—	Normal
2–1	NEB del e55	M	Rectus abdominis	0.3	Severe	Birth	Never walked
5	NEB del e55	F	Quad	0.7	Intermediate	Birth	Used walker at 7
4	NEB del e55	F	Quad	1.1	Intermediate	Birth	Never walked
1–2	NEB del e55	M	Para-spinal	5.7	Severe	Birth	Never walked
1–1	NEB del e55	M	Para-spinal	15.8	Severe	Birth	Used walker at 5

^aFrom Lehtokari et al. (10).

^bClinical form of NM as defined in Sanoudou and Beggs (3).