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Muscle magnetic resonance imaging abnormalities in X‐linked myopathy with excessive autophagy
Author(s) -
Mercier Sandra,
Magot Armelle,
Caillon Florence,
Isidor Bertrand,
David Albert,
Ferrer Xavier,
Vital Anne,
Coquet Michelle,
Penttilä Sini,
Udd Bjarne,
Mussini JeanMarie,
Pereon Yann
Publication year - 2015
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.24664
Subject(s) - muscle biopsy , myopathy , proximal muscle weakness , magnetic resonance imaging , medicine , biopsy , pathology , congenital myopathy , muscle weakness , anatomy , weakness , radiology
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. Muscle Nerve 52: 673–680, 2015