Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia.
Muscle Nerve
; 57(1): 157-160, 2018 Jan.
Article
in En
| MEDLINE
| ID: mdl-28120463
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.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Spinal Curvatures
/
Blepharoptosis
/
Muscular Atrophy, Spinal
/
Glycogen Storage Disease Type V
/
Muscular Dystrophies, Limb-Girdle
Type of study:
Prognostic_studies
Limits:
Aged
/
Female
/
Humans
/
Male
Language:
En
Journal:
Muscle Nerve
Year:
2018
Document type:
Article
Affiliation country:
France