x-linked agammaglobulinemia (xla) is an immunodeficiency caused by mutations in the bruton tyrosine kinase (btk) gene. in order to identify the mutations in btk gene in iranian patients with antibody deficiency, 13 male patients with an xla phenotype from 11 unrelated families were enrolled as the subjects of investigation for btk mutation analysis using pcr-sscp followed by sequencing. five di...

objective hereditary spastic paraplegia (hsp) is a degenerative disease of genetic origin affecting the corticospinal tracts in the spinal cord. there are three forms of inheritance: autosomal dominant hsp, autosomal rececive hsp and x-linked hsp. this disease is characterized by progressive spasticity of leg muscles with varying degrees of stiffness and weakness of other muscle groups. in this...

charcot-marie-tooth disease (cmt) is the most common form of inherited peripheral neuropathy. cmt is genetically and clinically heterogenous group of hereditary motor and sensory neuropathies characterized by areflexia, distal sensory loss and progressive weakness of the distal limb muscles. the x-linked cmt (cmtx) is the second most frequent form of charcot-marie-tooth disease. the dominant cm...

kennedy disease is a rare x-linked neurodegenerative disorder that affects patients in 30-50 years of age. it is caused by cag-repeat in androgen receptor gen. there is no known effective treatment for kennedy disease. we report a 60-year-old man who had fasciculations and proximal and distal muscle weakness. physical examination showed involvement of the bulbar musculature accompanied by tongu...

background:   objective: in this study we performed linkage analysis on a large x linked rsa pedigree to find a novel susceptibility locus for rsa.   materials and methods: a linkage scan using 11 microsatellites was performed in 27 members of a large pedigree of hereditary x-linked rsa. two point parametric linkage was performed using superlink v 1.6 program. results: evidence of linkage was o...

limb girdle muscular dystrophies (lgmds) are group of neuromuscular disorders which are characterized by progressive muscle weakness and they mostly affect the pelvic and shoulder girdle muscles. this disease can be inherited as autosomal dominant (lgmd1) and autosomal recessive (lgmd2). so far seven autosomal dominant and 20 autosomal recessive forms of this disease have been recognized reflec...

wiskott-aldrich syndrome (was) is a life-threatening x-linked recessive immunodeficiency disease described as a clinical triad of thrombocytopenia,  eczema, and recurrent infections, caused by mutations of the was protein (wasp) gene. the milder form of this disease is x-linked thrombocytopenia  (xlt) that  presents only as platelet abnormalities. mutation analysis for 15 boys with wiskott-aldr...

introduction: duchene/ becker (dmd/bmd) muscular dystrophy is the most frequent neuromuscular disease in children which is inherited as an x-linked recessive trait. the disease is caused by partial deletion in dystrophin gene. we developed a rapid and robust method for direct identification of female carriers of deletions and duplications in the dystrophin gene, in order to prevent the affected...