BioSample

Clinically affected with DMD;as well as chronic granulomatous disease;retinitis pigmentosa;and mental retardation;hepatosplenomegaly and lymphadenopathy noted at six months;recurrent pyoderma;respiratory infections;febrile episodes;recurrent suppurative lymphadenitis;osteomyelitis;and pneumonia;McLeod red cell phenotype;diffuse atrophy of retinal pigment epithelium and intraretinal pigment clumpng at age 2;retinal vessel attenuation;visual acuity 20/100 OD and 20/40+ OS;atrophy of macula with cystoid macular edema and drusen of the disc;severely constricted visual fields;ERG showed no detectable rod or cone responses;idiopathic intestinal pseudoobstruction;stood with support at age 2;walked short distances at 3 1/2 years;wide-based gait;weakness of proximal and distal muscles of upper and lower extremities;wheelchair bound at age 12;pseudohypertrophy of calf muscles;EMG consistent with a myopathy;muscle biopsy showed diffuse loss of muscle fibers and replacement by fibrous and adipose tissue and marked variation in fiber size on cross sections;elevated CPK of 1;039;46;Y;del(X)(Xpter>Xp21.3::Xp21.1>Xqter) by molecular analysis;dystrophin gene deletion from outside 5' end through at least exon 19;exon 44 is not deleted.