Table 1.

A. Inclusion criteria

Confirmed diagnosis of dysferlinopathy proven by a) two mutant alleles in the dysferlin gene (either homozygous mutation or compound heterozygous mutations) or b) one mutant allele and absent/severely reduced dysferlin amount on muscle immunoblot. Mutations were checked for their pathogenicity (16, 17).

Ambulant patients with or without aids were included; if a full-time wheelchair user only a certain number (1/4 of total number) of tests were done.

Ability to perform assessments (there are different assessments for ambulant and non-ambulant patients).

Informed consent to participate in the study.

Known current or planned medical or other interventions that might interfere with the possibility to undertake the planned tests.

Other concomitant pathology that in the view of the investigator would jeopardise the ability to take part in the protocol.

B. Exclusion criteria

Non ambulant patients

Patients who could not come for clinical examination