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Article

Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1).

Neuromuscular disorders : NMD - 1 Oct 2002

Mercuri Eugenio, Talim Beril, Moghadaszadeh Behzad, Petit Nathalie, Brockington Martin, Counsell Serena, Guicheney Pascale, Muntoni Francesco, Merlini Luciano

Abstract excerpt

We report clinical and imaging findings in six cases from five families affected by the form of congenital muscular dystrophy with rigid spine linked to the locus rigid spine muscular dystrophy 1 on chromosome 1p35-36. All cases showed rigidity of the spine, predominant neck and trunk weakness and frequent and severe thoracic scoliosis. Respiratory impairment was always observed in the first decade. Muscle...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 12207930
DOI: 10.1016/s0960-8966(02)00023-8

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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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