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Article

Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects.

Muscle & nerve - 1 Feb 2017

Punetha Jaya, Kesari Akanchha, Hoffman Eric P, Gos Monika, Kamińska Anna, Kostera-Pruszczyk Anna, Hausmanowa-Petrusewicz Irena, Hu Ying, Zou Yaqun, Bönnemann Carsten G, JȨdrzejowska Maria

Abstract excerpt

INTRODUCTION: Mutations in the COL12A1 (collagen, type XII, alpha 1) gene have been described in a milder Bethlem-like myopathy in 6 patients from 3 families (dominant missense), and in a severe congenital form with failure to attain ambulation in 2 patients in a single pedigree (recessive loss-of-function). METHODS: We describe an 8-year-old girl of Polish origin who presented with profound hypotonia and joint...

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PMID: 27348394
DOI: 10.1002/mus.25232
PMCID: PMC5236000

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Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects.PMID 27348394Read ↗

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