Mutations in the dysferlin gene lead to LGMD2B and Miyoshi myopathy among other phenotypes. We describe a cohort of 30 patients, from 24 non-related Chilean families, harbouring point mutations in the DYSF gene. Diagnosis was based on clinical findings or absence of dysferlin in muscle biopsy. Assessment workup consisted of clinical evaluation, Motor Function Measure (MFM) scale, CK level, electrodiagnostic testing, whole body MRI, echocardiogram, spirometry and DYSF gene direct sequencing. Nine mutations were consistently found in the cohort, four of which (c.5979dupA; c.2858dupT; c.2779delG and c.4390G>T) accounted for 77% of the total. In four patients only one mutation was found after complete DYSF gene sequencing. The age at symptom onset ranged from 10 to 33years (mean 20.7), symptoms manifesting invariably as weakness in the legs, distally (21/30) or proximally (9/30), progressing later to the upper limbs. Mean serum CK level was increased 58(±36) times above normal values. Electrodiagnostic assessment showed normal NCV and repetitive stimulation testing, with distinct degrees and distribution of myopathic changes on needle EMG. Single fibre EMG was normal in four confirmed dysferlinopathy patients. Muscle MRI done in 27/30 patients showed impairment with a similar distribution in all patients despite clinical phenotype. MFM scale score in 27/30 patients at different disease stages showed major impairment for standing and transfers and axial and proximal motor function, with relative sparing of distal motor function. Spirometry showed a mild restrictive defect in 3/17 patients at late stages of disease. Echocardiogram performed in 22/30 patients was within normal range. The clinical spectrum of dysferlinopathy in the series is in agreement with similar cohorts reported. The relative high frequency of some mutations suggests a founder effect for such mutations in the Chilean population. FONDECYT#1110159 (Conicyt, Chile).