INTRODUCTION: @entity17325 presents with heterogeneous clinical and molecular features. The primary characteristic of this disorder is proximal @entity425 with variable age of onset, speed of progression, and intensity of symptoms. @entity17601 , which are a subgroup of the @entity17325 , are caused by mutations in sarcoglycan genes. Mutations in these genes cause @entity3528 in other proteins, due to the instability of the dystrophin-glycoprotein complex. Therefore, determining the etiology of a given @entity17601 requires costly and occasionally inaccessible molecular methods. OBJECTIVE: The aim of this study was to identify phenotypic differences among @entity17325 @entity1 who were grouped according to the immunohistochemical phenotypes for the four sarcoglycans. METHODS: To identify phenotypic differences among @entity1 with different types of @entity17601 , a questionnaire was used and the muscle strength and range of motion of nine joints in 45 @entity1 recruited from the Department of Neurology--HC-FMUSP (Clinics Hospital of the Faculty of Medicine of the University of S  o Paulo) were evaluated. The findings obtained from these analyses were compared with the results of the immunohistochemical findings. RESULTS: The @entity1 were divided into the following groups based on the immunohistochemical findings: a- @entity17601 (16 @entity1 ), b- @entity17601 (1 @entity1 ), y- @entity17601 (5 @entity1 ), and nonsarcoglycanopathies (23 @entity1 ). The muscle strength analysis revealed significant differences for both @entity425 , particularly the shoulder and hip muscles, as expected. No pattern of joint @entity1159 was found among the four groups analyzed, even within the same family. However, a high frequency of tiptoe gait was observed in @entity1 with a- @entity17601 , while @entity291 pseudo- @entity1184 was most common in @entity1 with non- @entity17601 . The a- @entity17601 @entity1 presented with more severe @entity425 than did y- @entity17601 @entity1 . CONCLUSION: The clinical differences observed in this study, which were associated with the immunohistochemical findings, may help to prioritize the mutational investigation of sarcoglycan genes.

Phenotypic and immunohistochemical characterization of XXXX .

@entity1 :: ('9606', 'Species') :: ['patients', 'patient'] @entity1184 :: ('MESH:D006984', 'Disease') :: ['hypertrophy'] @entity3528 :: ('MESH:D006962', 'Disease') :: ['secondary deficiencies'] @entity425 :: ('MESH:D018908', 'Disease') :: ['muscular weakness', 'muscle weakness', 'upper and lower limb muscles'] @entity1159 :: ('MESH:D003286', 'Disease') :: ['contractures'] @entity17325 :: ('MESH:D049288', 'Disease') :: ['limb-girdle muscular dystrophy', 'Limb-girdle muscular dystrophy', 'limb-girdle muscular dystrophies'] @entity291 :: ('9913', 'Species') :: ['calf'] @entity17601 :: ('MESH:D058088', 'Disease') :: ['sarcoglycanopathies', 'sarcoglycanopathy', 'Sarcoglycanopathies']
@entity17601 :: (MESH:D058088,Disease) :: ['sarcoglycanopathies']
