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Article

Ullrich congenital muscular dystrophy and Bethlem myopathy: clinical and genetic heterogeneity.

Arquivos de neuro-psiquiatria - 1 Sept 2005

Reed Umbertina Conti, Ferreira Lucio Gobbo, Liu Enna Cristina, Resende Maria Bernadete Dutra, Carvalho Mary Souza, Marie Suely Kazue, Scaff Milberto

Abstract excerpt

UNLABELLED: Ullrich congenital muscular dystrophy (UCMD), due to mutations in the collagen VI genes, is an autosomal recessive form of CMD, commonly associated with distal joints hyperlaxity and severe course. A mild or moderate involvement can be occasionally observed. OBJECTIVE: To evaluate the...

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Source

Identifiers

PMID: 16258657
DOI: 10.1590/s0004-282x2005000500013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16258657-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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