Limb-girdle myasthenia with tubular aggregates associated with novel GFPT1 mutations.
Muscle Nerve
; 46(4): 600-4, 2012 Oct.
Article
em En
| MEDLINE
| ID: mdl-22987706
ABSTRACT
INTRODUCTION:
Limb-girdle myasthenia with tubular aggregates (LGM with TAs) is a subtype of congenital myasthenic syndrome caused by recessive mutations of glutamine-fructose-6-phosphate transaminase 1 (GFPT1).METHODS:
Clinical and neurophysiological assessment was made in a Korean boy who had proximal limb muscle weakness. Findings suggested a diagnosis of congenital myasthenic syndrome.RESULTS:
Muscle biopsy disclosed numerous TAs in muscle fibers, and DNA sequence analysis disclosed 2 novel missense mutations (p.E256Q and p.M499T) in GFPT1. Treatment with oral cholinesterase inhibitors produced a dramatic improvement in muscle strength.CONCLUSIONS:
GFPT1 is the key enzyme in the hexosamine biosynthesis pathway, and mutations in GFPT1 cause defective glycosylation in the proteins of the neuromuscular junction. Identification of LGM with TAs among patients with congenital myasthenic syndrome is important because treatment with cholinesterase inhibitors can produce symptomatic improvement.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Músculo Esquelético
/
Síndromes Miastênicas Congênitas
/
Glutamina-Frutose-6-Fosfato Transaminase (Isomerizante)
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Junção Neuromuscular
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Muscle Nerve
Ano de publicação:
2012
Tipo de documento:
Article