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Article

Is the carboxyl-terminus of dystrophin required for membrane association? A novel, severe case of Duchenne muscular dystrophy.

Annals of neurology - 1 Oct 1991

Hoffman E P, Garcia C A, Chamberlain J S, Angelini C, Lupski J R, Fenwick R

Abstract excerpt

Duchenne muscular dystrophy is a lethal X-linked recessive disorder caused by the deficiency of a component of the muscle fiber membrane cytoskeleton called dystrophin. Becker muscular dystrophy, a clinically milder disorder, results from dystrophin abnormalities rather than deficiency. We identified the first patient who is clearly an exception to these established clinical and biochemical correlates. The...

Topics

Chromosome Deletion
Dystrophin
Fluorescent Antibody Technique
Humans
Immunoblotting
Infant
Male
Muscles
Muscular Dystrophies
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 1789686
DOI: 10.1002/ana.410300414

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1789686-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Is the carboxyl-terminus of dystrophin required for membrane association? A novel, severe case of Duchenne muscular dystrophy.PMID 1789686Read ↗

Phenotypic Duchenne muscular dystrophy with C-terminal domain.Semantic proximity Read ↗

Is the maintainance of the C-terminus domain of dystrophin enough to ensure a milder Becker muscular dystrophy phenotype?Semantic proximity Read ↗

Dystrophin and utrophin: genetic analyses of their role in skeletal muscle.Semantic proximity Read ↗

The structure of the N-terminal actin-binding domain of human dystrophin and how mutations in this domain may cause Duchenne or Becker muscular dystrophy.Semantic proximity Read ↗

Differentiation of Duchenne and Becker muscular dystrophy phenotypes with amino- and carboxy-terminal antisera specific for dystrophin.Semantic proximity Read ↗

Increasing complexity of the dystrophin-associated protein complex.Semantic proximity Read ↗

Loss of a single amino acid from dystrophin resulting in Duchenne muscular dystrophy with retention of dystrophin protein.Semantic proximity Read ↗

[Molecular genetics of Duchenne/Becker muscular dystrophy].Semantic proximity Read ↗

Distal mdx muscle groups exhibiting up-regulation of utrophin and rescue of dystrophin-associated glycoproteins exemplify a protected phenotype in muscular dystrophy.Semantic proximity Read ↗

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

ZZ domain is essentially required for the physiological binding of dystrophin and utrophin to beta-dystroglycan.Semantic proximity Read ↗

Some unanswered questions in Duchenne muscular dystrophy.Semantic proximity Read ↗

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