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Article

Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy.

Neuromuscular disorders : NMD - 1 Apr 1998

Muntoni F, Lichtarowicz-Krynska E J, Sewry C A, Manilal S, Recan D, Llense S, Taylor J, Morris G E, Dubowitz V

Abstract excerpt

Emery-Dreifuss muscular dystrophy is an X-linked neuromuscular disorder caused by defects in the STA gene on Xq28, which codes for a nuclear protein named emerin. Affected patients usually present in early adolescence with scapulo-peroneal muscle weakness and wasting, and contractures of the tendo Achilles, elbows and paraspinal muscles, resulting in spine rigidity. We present here a case of Emery-Dreifuss...

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Identifiers

PMID: 9608559
DOI: 10.1016/s0960-8966(98)00006-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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