BACKGROUND: Multicore disease and congenital @entity121 are diseases assigned to the heterogeneous group of @entity121 . Although @entity2421 and @entity425 appearing in early life are the commonest manifestations of these diseases, distinct phenotypes and late onset cases have been described. OBJECTIVE: To report the occurrence of @entity925 as the revealing symptom of @entity9689 and @entity121 . METHODS: The clinical cases of three @entity1 with @entity121 and one with @entity9689 are described. Skeletal muscle biopsies were processed for routine histological and histochemical studies. RESULTS: The clinical picture was unusual in that the symptoms were of late onset and the predominant complaint was @entity925 exacerbated by exercise. @entity425 was found in only a single @entity1 , the mother of a @entity1 with @entity121 . Physical examination was unremarkable in the other @entity1 . Muscle biopsies from @entity1 1 and 2 contained type I fibres that were considerably smaller than the type II fibres, supporting the diagnosis of @entity121 . Skeletal muscle of @entity1 4 showed multiple areas, predominantly but not exclusively in the type I fibres, from which oxidative enzyme activities were absent, as seen in @entity9689 . CONCLUSIONS: @entity925 was the main clinical manifestation in our @entity1 . Recognition of the broader clinical expression of these @entity121 is important for prognostic reasons and for genetic counselling of the family members.

@entity925 as the revealing symptom of XXXX and @entity121 .

@entity1 :: ('9606', 'Species') :: ['patients', 'patient'] @entity9689 :: ('MESH:C564969', 'Disease') :: ['multicore disease'] @entity425 :: ('MESH:D018908', 'Disease') :: ['muscle weakness', 'Muscle weakness'] @entity2421 :: ('MESH:D009123', 'Disease') :: ['hypotonia'] @entity925 :: ('MESH:D063806', 'Disease') :: ['muscle pain', 'Muscle pain', 'myalgia'] @entity121 :: ('MESH:D009135', 'Disease') :: ['fibre type disproportion myopathy', 'congenital myopathies', 'myopathies']
@entity9689 :: (MESH:C564969,Disease) :: ['multicore disease']
