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Muscle Nerve. 2015 Oct;52(4):673-80. doi: 10.1002/mus.24664. Epub 2015 Jun 3.

Muscle magnetic resonance imaging abnormalities in X-linked myopathy with excessive autophagy.

Author information

1
Service de Génétique Médicale, Hôpital Mre-Enfant, CHU de Nantes, Nantes, France.
2
Centre de Référence Maladies Neuromusculaires Nantes, Angers, Hôtel-Dieu, CHU de Nantes, 44093, Nantes cedex, France.
3
Atlantic Gene Therapy, Biotherapy Institute for Rare Diseases, Nantes, France.
4
Laboratoire d'Explorations Fonctionnelles, Hôtel-Dieu, CHU de Nantes, Nantes, France.
5
Service de Radiologie Centrale, Hôtel-Dieu, CHU de Nantes, Nantes, France.
6
Centre de Référence Maladies Neuromusculaires, CHU de Bordeaux, Bordeaux, France.
7
Neuromuscular Research Center, Tampere University and University Hospital Tampere, Finland.
8
Folkhalsan Institute of Genetics, Helsinki, Finland.
9
Vasa Central Hospital, Vasa, Finland.
10
Laboratoire d'Anatomie Pathologique, Hôtel-Dieu, CHU de Nantes, Nantes, France.

Abstract

INTRODUCTION:

X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive myopathy due to recently reported mutations in the VMA21 gene.

METHODS:

Four men from 2 separate families were studied. The clinical presentation, genetic data, muscle biopsy, and muscle MRI were analyzed.

RESULTS:

A known VMA21 mutation, c.163+4A>G, and a new mutation, c.163+3A>G, respectively, were found in the 2 families. The clinical course was characterized by onset in childhood and progressive muscle weakness with a limb-girdle pattern. Muscle biopsy revealed a mild myopathy with an increased number of giant autophagic vacuoles. Whole-body muscle MRI showed that pelvic girdle and proximal thighs were the most and earliest affected territories, with sparing of rectus femoris muscles. Muscle changes essentially consisted of degenerative fatty replacement.

CONCLUSIONS:

This study highlights a distinctive MRI pattern of muscle involvement, which can be helpful for diagnosis of XMEA, even before muscle biopsy or genetic analysis.

KEYWORDS:

VMA21; XMEA; excessive autophagy; muscle MRI; myopathy

PMID:
25809233
DOI:
10.1002/mus.24664
[Indexed for MEDLINE]

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