October 13, 2008Neurology

Autosomal recessive myosclerosis myopathy is a collagen VI disorder

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Population

2 patients belonging to a consanguineous family affected by myosclerosis myopathy

Design

Case_series

Authors

LMLuciano MerliniUniversity of Bologna EME. MartoniUniversity of Ferrara PGPaolo GrumatiFederico II University Hospital

Discussion

Member takes

Implication

Recognizes myosclerosis myopathy as a COL6A2-related disorder; leaves open broader genotype-phenotype correlations pending replication.

Structured PICO

Population

2 patients belonging to a consanguineous family affected by myosclerosis myopathy

Intervention

Screening for mutations of collagen VI genes, biochemical and morphologic analysis of muscle biopsy and cultured fibroblasts

Outcome

Clinical and molecular features of myosclerosis myopathysurrogate

Myosclerosis myopathy is identified as a collagen VI disorder caused by a homozygous COL6A2 mutation, allelic to Ullrich congenital muscular dystrophy and Bethlem myopathy.

Cite This Study

Merlini et al. (2008) studied this question.

synapsesocial.com/papers/6a70330c5d37378ac1dd4554 https://doi.org/10.1212/01.wnl.0000327611.01687.5e

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Autosomal recessive myosclerosis myopathy is a collagen VI disorder

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Autosomal recessive myosclerosis myopathy is a collagen VI disorder

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider