Molecular signatures of inherited and acquired sporadic late onset nemaline myopathies

Table 2 Clinical features of inherited and sporadic late-onset nemaline myopathy patients

Pt	Age at onset	Age at diagnosis	Distribution of weakness	Severity
Inherited nemaline myopathy					Gene
1	1st decade	31	Scapulo-peroneal	Mild	ACTA1
2	1st decade	58	UL, LL, prox > dist	Moderate	ACTA1
3	Early 70 s	73	Generalized	Moderate-severe	NEB
4	1st decade	17	UL, prox and axial	Mild	ACTA1
5	Prenatal	3	Generalized	Severe	ACTA1
6	Unknown	9	Unknown	Unknown	NEB
7	5	7	LL prox > dist	Unknown	NEB
8	Unknown	12	Unknown	Unknown	ACTA1
9	Unknown	2	Unknown	Unknown	TNNT1
Sporadic late-onset nemaline myopathy					Monoclonal gammopathy
10	56	57	UL, LL, prox > dist, axial	Moderate	Absent
11	58	61	UL, prox; LL, prox > dist, axial	Moderate	IgG kappa
12	65	67	LL, prox	Moderate	Free lambda LC, ↑
13	45	46	LL > UL, prox	Moderate-severe	IgG kappa
14	59	63	UL, LL, axial	Moderate	IgG kappa
15	63	64	Axial > UL and LL, prox	Moderate	Absent
16	70	77	UL > LL, prox > dist	Mild-moderate	IgG kappa + IgG lambda
17	65	67	UL, axial	Mild-moderate	IgG lambda
18	60	73	UL > LL, axial	Moderate-severe	Absent
19	63	67	LL, prox > dist; LL > UL, prox	Mild-severe	IgG kappa
20	46	56	UL, LL, axial	Severe	IgG lambda
21	56	59	UL, LL, axial	Moderate-severe	IgG kappa + IgG lambda

Dist distal,LC light chain, LL lower limbs, prox proximal; UL upper limbs
Severity was based on strength of weak muscles according to Medical Research Council (MRC): mild (MRC 4); moderate (MRC 3–3.5); severe (MRC 0 to < 3)

ISSN: 2051-5960