Congenital myasthenic syndrome due to novel CHAT mutations in an ethnic kadazandusun family.
Muscle Nerve
; 53(5): 822-6, 2016 May.
Article
em En
| MEDLINE
| ID: mdl-26789281
ABSTRACT
INTRODUCTION:
Choline acetyltransferase (CHAT) gene mutations cause a rare presynaptic congenital myasthenic syndrome due to impaired acetylcholine resynthesis.METHODS:
We report 2 Kadazandusun brothers with novel heterozygous CHAT mutations.RESULTS:
The siblings were from a family of 7 children of nonconsanguineous parents, 3 who died from apneic crises. Both presented in infancy with ptosis and exertional limb weakness, but only 1 apnea episode was reported in the older sibling. The elder brother had a positive edrophonium test, and both were negative for acetylcholine receptor antibodies but improved with pyridostigmine treatment. A subsequent repetitive nerve stimulation test showed marked decremental response in the abductor digiti minimi only after prolonged ulnar nerve stimulation. Two novel CHAT gene mutations, p.Val306Leu and p.Ser704del were detected; the parents carried 1 mutation each.CONCLUSIONS:
Differences in survival demonstrate phenotypic variability within the same family and a relatively good long-term outcome of the surviving siblings.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Linhagem
/
Colina O-Acetiltransferase
/
Síndromes Miastênicas Congênitas
/
Heterozigoto
Limite:
Adult
/
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
Muscle Nerve
Ano de publicação:
2016
Tipo de documento:
Article
País de afiliação:
Malásia