Slow-Channel Congenital Myasthenic Syndrome due to a Novel Mutation in the Acetylcholine Receptor Alpha Subunit in a South Asian: A Case Report.
J Neuromuscul Dis
; 8(1): 163-167, 2021.
Article
en En
| MEDLINE
| ID: mdl-33216040
ABSTRACT
Congenital myasthenic syndromes (CMS) result from genetic mutations that cause aberrations in structure and/or function of proteins involved in neuromuscular transmission. The slow-channel CMS (SCCMS) is an autosomal dominant postsynaptic defect caused by mutations in genes encoding alpha, beta, delta, or epsilon subunits of the acetylcholine receptor resulting in a functional defect which is an increase of the opening time of the receptor. We report a case of SCCMS due to a heterozygous mutation in the M2 domain of the AChR alpha subunit - CHRNA1ENST00000348749.6exon7c.806T>Gp.Val269Gly and corresponding kinetic defect. A substitution of valine with phenylalanine in the same position has been previously described. This is the first reported case of a new CHRNA1 variant in a patient with SCCMS from South Asia. We also highlight the phenotype that would favour a genetic basis over an autoimmune one, in an adult presenting with fatigable weakness.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Receptores Nicotínicos
/
Síndromes Miasténicos Congénitos
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
/
Humans
País/Región como asunto:
Asia
Idioma:
En
Revista:
J Neuromuscul Dis
Año:
2021
Tipo del documento:
Article
País de afiliación:
Sri Lanka