Table 1. Clinical features of the patients.

							Pattern of muscle involvement
Family No.—patient	Variant (NP_001121699)	Sex	Age (year)	OA (year)	Consanguinity	Initial clinical presentation	Prominent weak muscle(s) in lower limbs	Relative quadriceps sparinga	Prominent weak muscle(s) in upper limbs	Prominent deep finger flexor involvementb	Cardiac/respiratory/non-muscular involvement	CK levels (IU/l)	WCB (age)	EDX/muscle biopsy
1	p.M743T	F	26	20	Yes	HGW	HA, FDF	++	IO	Yes	No/no/no	274	No	MP/RVM
2	p.M743T	M	31	26	Yes	FD and HGW	FDF, HA, and HF	++	IO	No	No/no/no	654	No	MP/RVM
3	p.M743T	M	29	23	No	HGW	HA, HF, and KF	++	IO	No	No/no/no	1975	+/−	MP/RVM
4	p.M743T	M	35	30	Yes	FD	FDF, HA, and HF	++	IO	No	No/no/no	360	No	MP/RVM
5	p.M743T	M	29	25	Yes	HGW	HA and HF	++	IO and TM	No	No/no/no	2260	No	MP/RVM
6	p.M743T	F	27	19	Yes	FD and HGW	FDF, HA, HF, and plantar flexors	++	IO mild	No	No/no/no	160	+/−	MP/RVM
7a	p.M743T	M	47	30	No	HGW	FDF and HA	++	Not involved	No	No/no/no	—	+/−	−/−
7b	p.M743T	F	35	27	No	HGW	FDF, HA, HF, and KF	++	IO and TM, elbow extensors	Yes	No/no/no	428	No	MP/RVM
Sangsari cohort44	p.M743T	F(4), M(1)	30–64	27–37	?	FD	?	++	?	?	?	?	1 Patient (<13 years after onset)
ME cohort7, 22	p.M743T	?	?	17–48	?	FD	?	5% Quadriceps involved	?	?	?	× 2–4	>15 Years after onset
8	p.R277Q	F	24	18	Yes	FD and HGW	FDF, HF, and HA	++	Distal and proximal	No	No/no/no	284	No	MP/RVM
9a	p.R277Q	F	45	27	No	FD and HGW	Proximal and distal	+	IO and proximal	No	No/no/no	—	Yes (40)	−/−
9b	p.R277Q	M	42	27	No	FD and HGW	FDF, HF, and HA	++	IO and TM	No	No/no/no	—	+/−	−/−
9c	p.R277Q	F	32	28	No	FD	FDF, HA, and HF	++	IO	No	No/no/no	172	No	MP/RVM
Taiwanese-142	p.R277Q, p.I272S	F	38	21	No	FD	FDF, hamstrings, and gastrocnemius	—	Deltoid, biceps, triceps, and intrinsic hand muscles	?	No/no/no	294	Yes (30)	Fibrillations and positive sharp waves in the TA and gastrocnemius muscles, but normal motor unit potentials/RVM/atrophy with variation of fiber sizes from the gastrocnemius
Taiwanese-242	p.R277Q, p.I272S	M	28	18	No	FD	FDF and gastrocnemius	+	Triceps	?	IRBBB/no/no	384	No	Normal (vastus lateralis)
Bahamas (4 patients)7	p.R277Q, p.D256N	?	?	18–24	No	FD	?	Mildly affected in 2 patients	?	?	?	?	?	?
Italy7	p.R277Q p.Q386_C387del/p.G383fs*15	F	49	21	No	FD	Distal and proximal	+	Distal and proximal	?	No/no/no	Slight increase	?	Neurogenic/RVM
Japanese (3 patients)33	p.R277Q with p.D207V (2) and p.V603L (1)	F	22–36	19–34	?	?	?	?	?	?	?	?	?	?
10a	p.L268=	F	42	28	Yes	HD and HGW	HF, HA, KF, and FDF	++	HD	Yes	No/no/no	200	Yes (39)	MP/RVM
10b	p.L268=	M	34	30	Yes	HD and FD	FDF	++	HD	No	No/no/no	—	No	−/−
10c	p.L268=	F	46	26	Yes	HD and HGW	HF, HA, KF, and FDF	++	Distal and proximal	Yes	No/no/no	220	Yes (40)	MP/−
11a	p.L268=	M	33	31	No	FD and HGW	HA and FDF	++	IO	No	No/no/no	603	No	−/−
11b	p.L268=	M	31	24	No	FD and HGW	HA, KF, and FDF	++	IO	Yes	No/no/no	422	No	MP/RVM
11c	p.L268=	F	24	24	No	HGW	HA and HF	++	IO	No	No/no/no	382	No	MP/−

Abbreviations: CK, creatine kinase; EDX, electrodiagnostic; FD, foot drop; FDF, foot dorsiflexors; HA, hip adductors; HD, hand weakness; HF, hip flexors; HGW, hip-girdle weakness; IO, interossei muscles; IRBBB, incomplete right bundle branch block; KF, knee flexors; MP, myopathic, OA, onset age; RVM, rimmed vacuolar myopathy; TM, thenar muscles; WCB, wheelchair bound; +/−, barely able to walk; −/−, no biopsy was performed.

^a+: mild, ++: prominent.

^bCompared to other hand muscles.