The clinico-pathological features of 17 @entity1 displaying a @entity121 with lobulated (trabeculated) fibers are reported. All these @entity1 had a limb girdle phenotype and at least 20% of lobulated fibers in their muscle biopsies. There were ten females and seven males. The onset of symptoms ranged from 2 to 55 years (mean 24). The average age at the time of muscle biopsy was 39 (range 3-63). Interestingly, in six @entity1 , high prevalence of lobulated fibers was observed at the second biopsy only, performed on average 11 years after the first or in another muscle. Six @entity1 had a suggestively positive family history. @entity425 was noted in two @entity1 (genetic study confirmed @entity20588 ). The course and the severity of @entity425 varied from one @entity1 to another. Immunohistochemistry and Western blot analyses revealed one Duchenne carrier, one @entity17601 , no @entity29731 and four @entity942 (including one @entity1 with @entity20588 ), but SSCP revealed mutation in the calpain gene in only one of the @entity1 . These results show that (1) @entity121 with lobulated fibers are clinically and genetically heterogeneous, (2) lack of calpain expression by Western blot analysis is not always associated with null mutation, (3) a molecular diagnosis is made in less than 40% of @entity121 with lobulated fibers, (4) when observed, lobulated fibers are most prominent in proximal muscles and require time to appear.

XXXX with lobulated muscle fibers: evidence for heterogeneous etiology and clinical presentation.

@entity1 :: ('9606', 'Species') :: ['patients', 'patient'] @entity29731 :: ('MESH:C537995', 'Disease') :: ['dysferlinopathy'] @entity20588 :: ('MESH:D020391', 'Disease') :: ['FSH dystrophy'] @entity425 :: ('MESH:D018908', 'Disease') :: ['weakness', 'Facial weakness'] @entity121 :: ('MESH:D009135', 'Disease') :: ['myopathy', 'myopathies'] @entity942 :: ('MESH:D003677', 'Disease') :: ['calpain deficiencies'] @entity17601 :: ('MESH:D058088', 'Disease') :: ['alpha-sarcoglycanopathy']
@entity121 :: (MESH:D009135,Disease) :: ['Myopathy']
