Table 2

Clinical data of affected individuals

Patients	Age (years)	Age of onset (years)	First symptom	Weakness	Muscle atrophy	Tendon reflexes	Other symptoms
LL, lower limbs.
III-3	62	10	Not known	Distal, moderate, 4 limbs	Distal, severe	Absent
IV-36	23	2	Gait instability	Distal, moderate, 4 limbs	Distal, severe	Absent	Perioral myokimia
IV-13	15	8	Pes varus	Distal, moderate, 4 limbs	Distal, moderate	Absent, LL	Obesity, gynaecomasty
IV-48	14	6	Pes cavus	Distal, mild, 4 limbs	Mild, LL and hands	Absent, LL
IV-45	12	5	Pes cavus	Distal, mild, LL	Mild, LL and hands	Reduced LL
IV-56	12	8	Pes cavus	Absent	Absent	Normal
IV-11	9	9	Gait instability	Distal, mild, LL	Absent	Reduced ankle
IV-49	8	1	Pes cavus	Distal, mild, 4 limbs	Mild, LL	Normal
IV-52	4	2	Pes cavus	Absent	Absent	Normal