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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...

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Identifiers

PMID: 1789686
DOI: 10.1002/ana.410300414

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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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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 ↗

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 ↗

[Molecular pathology of Duchenne and Becker muscular dystrophy].Semantic proximity Read ↗

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