BACKGROUND: @entity29731 is caused by a very wide range of autosomal recessively inherited mutations of the @entity29729 gene. It causes a spectrum of @entity121 including @entity17325 ( @entity17325 ) 2B and @entity29730 ( @entity29730 ). We describe the clinical course and mutational analyses of 15 Iranian @entity1 with @entity29731 from 9 different families. METHODS: Genomic DNA was extracted from peripheral blood and 55 exons and flanking intronic boundaries of the @entity29729 gene ( @entity29729 ; NM_003494.2) were screened for mutations and analyzed. RESULTS: From 15 studied @entity1 in 9 families, 5 @entity1 were male. Seven families had consanguineous marriage. Median age of onset was 16.8; and the median age of diagnosis was 26.6. The onset was clearly distal in 7 @entity1 , and proximal in 6 @entity1 . Three @entity1 had partial biceps @entity194 and 13 showed prominent @entity291 @entity2057 . @entity10395 , deep finger flexors and hip adductors were predominantly involved. Genetic testing showed homozygous mutation of @entity29729 gene in 9 probands, 5 of which were not previously reported. CONCLUSION: This work, in fact, may help shed some light on the pattern of this morbidity in Iran, an effort that may have not been attempted so far.

XXXX in Iran: Clinical and genetic report.

@entity1 :: ('9606', 'Species') :: ['patients'] @entity2057 :: ('MESH:D009133', 'Disease') :: ['muscle wasting'] @entity291 :: ('9913', 'Species') :: ['calf'] @entity29731 :: ('MESH:C537995', 'Disease') :: ['dysferlinopathy', 'Dysferlinopathy'] @entity29729 :: ('8291', 'Gene') :: ['DYSF', 'dysferlin', 'Dysferlin'] @entity10395 :: ('MESH:D005534', 'Disease') :: ['Foot plantar flexors'] @entity29730 :: ('MESH:C537480', 'Disease') :: ['Miyoshi myopathy', 'MM'] @entity194 :: ('MESH:D001284', 'Disease') :: ['atrophy'] @entity17325 :: ('MESH:D049288', 'Disease') :: ['limb-girdle muscular dystrophy', 'LGMD'] @entity121 :: ('MESH:D009135', 'Disease') :: ['muscle diseases']
@entity29731 :: (MESH:C537995,Disease) :: ['Dysferlinopathy']
