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Article

Molecular characterisation of Duchenne muscular dystrophy and phenotypic correlation.

Journal of the neurological sciences - 7 May 1998

Mital A, Kumari D, Gupta M, Goyle S

Abstract excerpt

Dystrophin gene was analysed in 32 unrelated DMD families (46 subjects: 32 index cases and 14 sibs) for the presence of deletions by mPCR for 27 exons and cDNA probes for the entire gene. Deletions were identified in 32 patients (25 index cases and seven sibs) from 25 families. The concordance between the clinical phenotype and 'reading frame' hypothesis was observed in 24 (75%) cases. Of these, nine patients...

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Identifiers

PMID: 9619643
DOI: 10.1016/s0022-510x(98)00051-3

Genes

DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Molecular characterisation of Duchenne muscular dystrophy and phenotypic correlation.PMID 9619643Read ↗

Analysis of dystrophin gene deletions indicates that the hinge III region of the protein correlates with disease severity.Semantic proximity Read ↗

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Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy, with special reference to mental ability.Semantic proximity Read ↗

Clinical variability in Becker muscular dystrophy. Genetic, biochemical and immunohistochemical correlates.Semantic proximity Read ↗

Interrelationship between gene, its product and phenotype in Duchenne and Becker muscular dystrophy.Semantic proximity Read ↗

Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation.Semantic proximity Read ↗

Genotype-phenotype correlation and germline mosaicism in DMD/BMD patients with deletions of the dystrophin gene.Semantic proximity Read ↗

An intact cysteine-rich domain is required for dystrophin function.Semantic proximity Read ↗

Further evidence for an attenuated phenotype of in-frame DMD deletions affecting the central rod domain of dystrophin around exon 48.Semantic proximity Read ↗

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