Screening of male patients with autosomal recessive Duchenne dystrophy through dystrophin and DNA studies

Dystrophin: The protein product of the duchenne muscular dystrophy locus

1987 • 4,477 citations

Characterization of Dystrophin in Muscle-Biopsy Specimens from Patients with Duchenne's or Becker's Muscular Dystrophy

1988 • 910 citations

An autosomal transcript in skeletal muscle with homology to dystrophin

1989 • 478 citations

Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome.

1985 • 456 citations

Quantitation of muscle function in children: A prospective study in duchenne muscular dystrophy

1982 • 302 citations

Preferential deletion of exons in Duchenne and Becker muscular dystrophies

1987 • 201 citations

Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies

1988 • 178 citations

Maintenance of ambulation in childhood muscular dystrophy

1960 • 156 citations

Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations.

1988 • 154 citations

Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm.

1979 • 143 citations

Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus.

1981 • 113 citations

Molecular deletion patterns in Duchenne and Becker type muscular dystrophy

1989 • 86 citations

Cytogenetic heterogeneity of translocations associated with Duchenne muscular dystrophy

1986 • 82 citations

Estimate of the proportion of Duchenne muscular dystrophy with autosomal recessive inheritance

1989 • 44 citations

Screening of deletions in the dystrophin gene with the cDNA probes Cf23a, Cf56a, and Cf115.

1990 • 44 citations

Dystrophin immunostaining in muscles from patients with different types of muscular dystrophy: a Brazilian study

1990 • 41 citations

Brother/sister pairs affected with early-onset, progressive muscular dystrophy: molecular studies reveal etiologic heterogeneity.

1989 • 23 citations

Evaluation of carrier detection rates for duchenne and becker muscular dystrophies using serum creatine‐kinase(CK) and pyruvate‐kinase(PK) through discriminant analysis

1986 • 9 citations

Reply to Coakley et al.

1989 • 2 citations