Objective To clarify the clinical heterogeneity and genotype-phenotype correlation in dysferlinopathy. Methods Weevaluated clinical parameters of 74 dysferlinopathy patients with knowndysferlin gene mutations who were previously reported in the literature. Results The age at onset varied from 12 to 59 years (mean 21.7 years). Based on the initial distribution of muscle involvement, clinical phenotypes were divided into four subtypes: limb-girdle type, Miyoshi's type, distal anterior compartment

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... type, or scapuloperoneal type. These phenotypic differences were prominent at the early stages, but were difficult to recognize later in the progression of the disease. Patients with missense mutations had significantly moresevere functional status at examination and higher creatine kinase levels than those with frameshift or nonsense mutations. Conclusion Dysferlinopathy exhibited marked heterogeneity in the age at onset, initial distribution of muscle involvement, and rate of disease progression. As this heterogeneity was observed even within the samefamily, some additional factors distinct from dysferlin might be involved. (Internal Medicine 41: 532-536, 2002)