Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1.
Neuromuscul Disord
; 26(1): 16-20, 2016 Jan.
Article
en En
| MEDLINE
| ID: mdl-26652229
ABSTRACT
Five Sardinian patients presented in their 5th or 6th decade with progressive limb girdle muscle weakness but their muscle biopsies showed vacuolar myopathy. The more or less abundant subsarcolemmal and intermyofibrillar vacuoles showed intense, partially α-amylase resistant, PAS-positive deposits consistent with polyglucosan. The recent description of late-onset polyglucosan myopathy has prompted us to find new genetic defects in the gene (GYG1) encoding glycogenin-1, the crucial primer enzyme of glycogen synthesis in muscle. We found a single homozygous intronic mutation harbored by five patients, who, except for two siblings, appear to be unrelated but all five live in central or south Sardinian villages.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Glicoproteínas
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Enfermedad del Almacenamiento de Glucógeno
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Glucanos
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Glucosiltransferasas
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Mutación
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Enfermedades del Sistema Nervioso
Límite:
Adult
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Aged
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
Neuromuscul Disord
Asunto de la revista:
NEUROLOGIA
Año:
2016
Tipo del documento:
Article