Table 1.

Clinical characteristics of previously described patients.

	Age of presentation (years)	Variant	Zygodity	Short stature	Motor delay	Speech delay	Learning disabilities	Elevated liver transaminases	Elevated CK max level	Abnormal gait	Muscular hypotonia	Muscule weakness	Extrapyrimidal signs	Muscular cramps	Calf muscle hypertrophy	Ataxia	Seizures	Microcephaly	MRI findings	Acute episodes
Musa F1	9	p.Q185X	homo	yes	yes	yes	yes	yes	yes	no	yes	yes	no	yes	no	n/a	n/a	n/a	n/a	no
Musa F2	2	p.Q185X	homo	yes	yes	yes	no	yes	yes	yes	yes	no	yes	no	no	n/a	no	n/a	yes	no
Musa F3	10	p.Q185X	homo	yes	yes	yes	yes	yes	yes	no	no	yes	no	no	no	n/a	n/a	n/a	n/a	no
Musa F4	11	p.Q185X	homo	no	yes	yes	yes	n/a	yes	no	no	no	no	no	no	n/a	n/a	n/a	n/a	no
Musa F5.1	23	p.Q185X	homo	n/a	yes	yes	yes	yes	yes	no	no	no	yes	yes	yes	n/a	yes	n/a	no	no
Musa F5.2	21	p.Q185X	homo	n/a	yes	yes	yes	yes	yes	no	no	no	yes	yes	yes	n/a	yes	n/a	no	no
Musa F5.3	21	p.Q185X	homo	n/a	yes	yes	yes	yes	yes	no	no	no	yes	yes	yes	n/a	yes	n/a	no	no
Musa F6	2	p.Q185X	homo	yes	yes	yes	n/a	yes	yes	n/a	no	no	no	no	no	n/a	n/a	n/a	n/a	no
Musa F7	4	p.Q185X; Ex9-10del	compound hetero	no	yes	n/a	n/a	yes	yes	yes	yes	yes	no	no	no	n/a	n/a	n/a	n/a	no
Musa F8.1	6	p.Q185X	homo	no	yes	n/a	yes	yes	yes	yes	yes	yes	no	no	no	n/a	n/a	n/a	n/a	no
Musa F8.1	14	p.Q185X	homo	no	yes	n/a	yes	yes	yes	yes	yes	yes	no	no	no	n/a	n/a	n/a	n/a	no
Musa F9	10	p.Q185X	homo	no	yes	yes	yes	yes	yes	no	no	no	no	no	no	n/a	yes	n/a	n/a	no
Musa F10	3	p.Q185X	homo	yes	yes	yes	yes	yes	yes 5175	n/a	yes	yes	yes	no	no	n/a	n/a	n/a	n/a	no
Mojbafan F1	10	c.1295del	homo	n/a	no	yes	n/a	yes	yes	n/a	n/a	n/a	yes	n/a	yes	n/a	n/a	n/a	n/a	no
Bitarafan	44	p.R129X	homo	no	no	no	yes	yes	yes	yes	n/a	yes	yes	n/a	n/a	yes	no	no	no	no
Logan F1	1y 6m	c.1078-1G>C	homo	no	yes	no	yes	n/a	yes 400	n/a	n/a	no	yes	n/a	n/a	no	n/a	yes	no	no
Logan F2.1	1y 10m	c.1078-1G>C	homo	no	yes	no	yes	n/a	yes 2500	n/a	n/a	no	yes	n/a	n/a	no	n/a	no	n/a	no
Logan F2.2	1y 6m	c.1078-1G>C	homo	no	yes	no	no	n/a	yes 2800	n/a	n/a	no	no	n/a	n/a	no	n/a	no	n/a	no
Logan F3.1	1y 6m	c.1078-1G>C	homo	no	yes	yes	yes	n/a	yes 1300	n/a	n/a	yes	yes	n/a	n/a	no	n/a	yes	n/a	no
Logan F3.2	2	c.1078-1G>C	homo	no	yes	no	yes	n/a	n/a	n/a	n/a	yes	yes	n/a	n/a	no	n/a	no	n/a	no
Logan F4	5	c.1078-1G>C	homo	yes	yes	yes	yes	n/a	yes 8000	n/a	n/a	yes	yes	n/a	n/a	no	n/a	no	yes	no
Logan F5	3	c.1078-1G>C	homo	no	yes	yes	yes	n/a	yes 12500	n/a	n/a	no	yes	n/a	n/a	no	n/a	no	no	no
Logan F6	3	c.1078-1G>C	homo	no	yes	yes	yes	n/a	yes 4800	n/a	n/a	yes	yes	n/a	n/a	no	n/a	yes	no	no
Logan F7	2	c.1078-1G>C	homo	yes	yes	no	yes	n/a	yes 4200	n/a	n/a	no	yes	n/a	n/a	no	n/a	yes	n/a	no
Logan F8.1	3	c.1078-1G>C	homo	yes	yes	yes	yes	n/a	yes 8000	n/a	n/a	no	yes	n/a	n/a	yes	n/a	no	no	no
Logan F8.2	2	c.1078-1G>C	homo	no	yes	yes	yes	n/a	yes 1600	n/a	n/a	no	yes	n/a	n/a	no	n/a	yes	yes	no
Logan F9.1	2y 4m	c.741 + 1G>A	homo	yes	no	no	yes	n/a	yes 9000	n/a	n/a	yes	yes	n/a	n/a	yes	n/a	no	yes	no
Logan F9.2	11m	c.741 + 1G>A	homo	no	yes	no	yes	n/a	yes 4000	n/a	n/a	yes	yes	n/a	n/a	yes	n/a	no	no	no
Logan F10.1	8	c.741 + 1G>A	homo	no	no	no	yes	n/a	yes 8900	n/a	n/a	no	yes	n/a	n/a	no	n/a	no	n/a	no
Logan F10.2	6	c.741 + 1G>A	homo	no	yes	yes	yes	n/a	yes 5000	n/a	n/a	no	yes	n/a	n/a	no	n/a	no	n/a	no
Wilton	3	c.161 + 1G>A; c.386G > C	compound hetero	no	yes	no	yes	no	yes 2755	yes	n/a	n/a	yes	n/a	n/a	yes	yes	no	yes	no
Lewis-Smith F1.1	5	5′UTR-Ex1del	homo	no	no	no	no	no	yes 2067	no	no	no	yes	no	no	no	no	no	no	yes
Lewis-Smith F1.2	6m	5′UTR-Ex1del	homo	no	yes	no	yes	no	yes 2000	no	yes	yes	no	no	no	no	no	no	no	yes
Roos	3	p.Q185X	homo	no	yes	yes	yes	n/a	yes	yes	n/a	n/a	no	n/a	n/a	yes	n/a	no	n/a	no
This case	1 y. 2m.	Ex2del	homo	no	no	no	no	yes	yes	yes	yes	yes	no	no	yes	no	no	no	no	yes

N/a, not available information in the text. F1, F2 etc – different families. F5.1, F5.2 etc – different patients in one family.