Table 1.

Phenotypic characteristics of patients with titin p.Gly30150Asp and p.Cys30071Arg mutations

Family, Country	Family A					Family B	Family C
	U.S., European ancestry					Canada, East Indian	Spain
TTN Mutation	p.Gly30150Asp					p.Cys30071Arg
Patient	(II:3)	(II:4)	(II:6)	(III:1)	(III:3)	(Index)	(Index)
Age at onset	29	17	22	13	14	22	36
Age at exam	37	33	29	14	14	26	41
Age at wheelchair	38	-	31	-	-	32	-
Age at respiratory failure	39	-	37	-	-	26	37
Muscles affected at presentation	Proximal LL	Neck, proximal LL	Proximal LL	Proximal LL	Neck, Proximal LL	UL, distal and proximal LL	Proximal LL
Facial muscles	5	5	5	5	5	5	5
Neck flexion	4	4+	4+	4+	5-	5	4
Neck extension	4	5	5	5	5	5	5
Shoulder abduction	4	5	3-	5	5-	4	5
Shoulder adduction	5	4+	4	5	5-	4	5
Elbow flexion	5-	5	5	5	5	5	5
Elbow extension	4+	5	4	5	5	4	5
Wrist flexion	4+	5	4	5	5	4	5
Wrist extension	4+	5	4	5	5	4	4
Finger flexion	4+	5	4	5	5	5	5
Finger extension	4+	5	4	4+	5	4+	4
Intrinsic hand muscles	4+	5	4+	5	5	4+	5
Hip flexion	3-	4+	3-	4	5-	2	3
Hip abduction	4	4	3-	5	5	3	4+
Knee flexion (hamstrings)	4	4+	2	5	5	4	5
Knee extension (quadriceps)	4	4+	3-	5	5	2	4
Ankle dorsiflexion (anterior tibialis)	4	4+	2	4+	4+	3	4
Ankle plantar flexion (gastrocnemius)	4+	4+	2+	5	5	5	5
Toe dorsiflexion	4	4+	2	4+	5	3	2
Toe plantar flexion	4+	4+	4+	5	5	5	5
Gait while ambulant	Waddling	Waddling	Waddling, steppage	Normal	Normal	Steppage	Waddling, steppage
Wasted muscles	Sterno-mastoid, trapezius	Sterno-mastoid, trapezius	Sterno-mastoid, trapezius	none	none	none	none
Bilateral calf hypertrophy	yes	yes	yes	yes	no	yes	no
Pulmonary function	restriction	normal	restriction	normal	normal	Severe restriction	Severe restriction
Dyspnea	yes	no	yes	no	no	yes	yes
Cardiomyopathy	no	no	no	no	no	no	no
CK levels	nt	nt	2-fold-increased	nt	normal	Mildly-increased	2-fold-increased
EMG - Myogenic with spontaneous activity	nt	nt	yes	nt	nt	yes	yes

LL – lower limbs; nt – not tested.