Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

Table 1 Clinical features of the affected individuals

Variable	Subject (IV:3)	Subject (IV:5)
Sex	Male	Male
Age	25	20
Microcephaly	+	+
Wheelchair	+	+
Scoliosis	+	+
Synophrys	+	+
Hearing impairment	–	–
Intellectual disability	+	+
Pelvic girdle weakness	+	+
Skeletal abnormalities	++	++
Difficulty in rising from the floor	++	++
Syncope attack	+	+
Scapular and trunk muscles weakness	+	+
Cardiac impairment	+	+
Muscle pain and stiffness	–	–
Seizures	–	–
Cancer	–	–
Narrow shoulder	+	+
Skin	Normal	Normal
Eye sight	Normal	Normal
Behavior	Nervous/forgetful	Nervous/forgetful
Pregnancy event	Normal	Normal