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Muscle Nerve. 2018 Jan;57(1):157-160. doi: 10.1002/mus.25588. Epub 2017 Mar 21.

Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia.

Author information

1
Département de Neurologie, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, 1 Avenue Molière, 67098, Strasbourg, France.
2
Centre de Référence Neuromusculaire du Grand Est (CERNEST), Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
3
Service des Maladies Héréditaires du Métabolisme, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron, France.
4
Service de Pathologie, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

Abstract

INTRODUCTION:

McArdle disease is a glycogen storage disease caused by mutations in the PYGM gene encoding myophosphorylase. It manifests classically with childhood-onset exercise-induced pain.

METHODS:

We report the characteristics of 2 unrelated patients with a new homozygous mutation of the PYGM gene.

RESULTS:

Two patients, aged 76 and 79 years, presented with severe upper and lower limb atrophy and weakness. Additionally, 1 patient presented with bilateral ptosis, and the other with camptocormia. In both patients, symptoms had developed progressively in the 2 preceding years, and there was no history of exercise intolerance. Both patients demonstrated myogenic abnormalities on electromyography, multiple glycogen-containing vacuoles and undetectable muscle myophosphorylase activity on muscle biopsy, and a novel homozygous frameshift p.Lys42Profs*48 PYGM mutation.

CONCLUSIONS:

This report expands the phenotype and genotype of McArdle disease and suggests that PYGM mutations should be looked for in patients with very late-onset myopathy with no previous history of exercise intolerance. Muscle Nerve 57: 157-160, 2018.

KEYWORDS:

McArdle disease; PYGM; camptocormia; elderly; glycogen storage disease; myopathy

PMID:
28120463
DOI:
10.1002/mus.25588
[Indexed for MEDLINE]

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