Top

Published in:

Open Access 01-07-2019 | Diseases of the neuromuscular synapses and muscles | Original Communication

A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy

Authors: Manu Jokela, Sara Lehtinen, Johanna Palmio, Anna-Maija Saukkonen, Sanna Huovinen, Anna Vihola, Bjarne Udd

Published in: Journal of Neurology | Issue 7/2019

Abstract

Limb-girdle muscular dystrophies (LGMD) are genetic disorders characterized by weakness of predominantly proximal limb and trunk muscles due to progressive loss of muscle tissue. Collagen VI-related muscular dystrophies usually display more generalized muscle involvement combined with contractures and/or hyperlaxity of distal finger joints. LGMD-like phenotype of collagenopathy has only rarely been described and as reported is usually of childhood onset. We identified a Finnish family with COL6A2-related LGMD with autosomal dominant inheritance and very late onset at 40–60 years of age. Since the mutation was previously unreported, the pathognomonic findings on muscle MRI were the decisive clue for the correct diagnosis.

Straub V, Murphy A, Udd B, LGMD workshop study group (2018) 229th ENMC international workshop: Limb girdle muscular dystrophies—Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017. Neuromuscul Disord 28:702–710CrossRefPubMed

Bönnemann C (2011) The collagen VI-related myopathies: muscle meets its matrix. Nat Rev Neurol 7:379–390CrossRefPubMedPubMedCentral

Scacheri PC, Gillanders EM, Subramony SH, Vedanarayanan V, Crowe CA, Thakore N et al (2002) Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. Neurology 58:593–602CrossRefPubMed

Evilä A, Arumilli M, Udd B, Hackman P (2016) Targeted next-generation sequencing assay for detection of mutations in primary myopathies. Neuromuscul Disord 26:7–15CrossRefPubMed

Lampe AK, Flanigan KM, Bushby KM, Hicks D. Collagen Type VI-Related Disorders..In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2019. 2004 Jun 25 [updated 2012 Aug 9].

Buendía J, Paipa A, Dominguez R et al (2016) Rolled cake sign in calpain related myopathies. Neuromuscul Disord 26:S100CrossRef

Palmio J, Udd B (2014) Borderlines between sarcopenia and mild late-onset muscle disease. Front Aging Neurosci 6:267CrossRefPubMedPubMedCentral

Title: A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy
Authors: Manu Jokela
Sara Lehtinen
Johanna Palmio
Anna-Maija Saukkonen
Sanna Huovinen
Anna Vihola
Bjarne Udd
Publication date: 01-07-2019
Publisher: Springer Berlin Heidelberg
Keywords: Diseases of the neuromuscular synapses and muscles
Muscular Dystrophy
Muscular Dystrophy
Myopathy
Published in: Journal of Neurology / Issue 7/2019
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-019-09307-y

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy

Abstract

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 7/2019

Cerebellar functional abnormalities in early stage drug-naïve and medicated Parkinson’s disease

Seizures and epilepsy in multiple sclerosis: epidemiology and prognosis in a large tertiary referral center

Rituximab as induction therapy in refractory myasthenia gravis: 18 month follow-up study

Diagnosis strategy and Yacovino maneuver for anterior canal-benign paroxysmal positional vertigo

Thrombocytopenia and declines in platelet counts: predictors of mortality and outcome after mechanical thrombectomy

Obituary for Prof. Dr. Dr. h.c. Dipl. Ing. Frank Lehmann-Horn