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Article

Autosomal recessive myosclerosis myopathy is a collagen VI disorder.

Neurology - 14 Oct 2008

Merlini L, Martoni E, Grumati P, Sabatelli P, Squarzoni S, Urciuolo A, Ferlini A, Gualandi F, Bonaldo P

Abstract excerpt

OBJECTIVE: To determine the clinical and molecular features of a new phenotype related to collagen VI myopathies. METHODS: We examined two patients belonging to a consanguineous family affected by myosclerosis myopathy, screened for mutations of collagen VI genes, and performed a detailed biochemical and morphologic analysis of the muscle biopsy and cultured fibroblasts. RESULTS: The patients had a novel...

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Source

Identifiers

PMID: 18852439
DOI: 10.1212/01.wnl.0000327611.01687.5e

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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