Table 1.

Clinical, Pathological, and Mutational Data on Patients with Actin NM

			Age at		Fiber Type(%)			Fiber Status(%)
Patient (Family)	Clinical Classificationa	Mode of Inheritanceb	Time of Study	Biopsy	Slow Myosin	Fast Myosin	Fibers with Rods(%)	Atrophied	Hypertrophied	Actin Mutation	Amino Acid Substitution	Binding Sites/Other Functions
1	Severe congenital	Sporadic	(Died at 6 mo)	6 wk	∼99	40–50	99	5–10	0	ATC→CTC	Ile357Leu	α-Actinin,c tropomyosind
2	Severe congenital	Sporadic	(Died at 13 mo)	5 wk	50	50	50	5	0	CGC→GGC	Arg183Gly	DNase Ie
3	Childhood onset	Sporadic	10 years	5 years	100	10–15	14	5	5	GGT→TGT	Gly268Cys	Filament stabilizationf
4	Typical congenital	Sporadic	45 years	27 years	90	10	98	0	90	ATC→ATG	Ile136Met	?
5 (A)	Typical congenital	AD	35 years	34 years	100	20	35	30	0	AAC→AGC	Asn115Ser	α-Actinin,g filaminh
6 (A)	Childhood onset	AD	19 years	17 years	100	∼1	100	∼10	0	AAC→AGC	Asn115Ser	α-Actinin,g filaminh
7 (A)i	Typical congenital	AD	4 years	…	…	…	…	…	…	AAC→AGC	Asn115Ser	α-Actinin,g filaminh

^aFrom Wallgren-Pettersson and Laing (2000).

^bAD = autosomal dominant.

^cFrom Mimura and Asano (1987).

^dFrom Moir and Levine (1986).

^eFrom Kabsch et al. (1990).

^fFrom Holmes et al. (1990).

^gFrom Lebart et al. (1993).

^hFrom Mejean et al. (1992).

ⁱNo biopsy was performed on this patient.