Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy.
Neuropediatrics
; 48(6): 451-455, 2017 Dec.
Article
em En
| MEDLINE
| ID: mdl-28411587
ABSTRACT
Native American myopathy (NAM) is an autosomal recessive congenital myopathy, up till now exclusively described in Lumbee Indians who harbor one single homozygous mutation (c.1046G>C, pW284S) in the STAC3 gene, encoding a protein important for proper excitation-contraction coupling in muscle. Here, we report the first non-Amerindian patient of Turkish ancestry, being compound heterozygous for the mutations c.862A>T (p.K288*) and c.432+4A>T (aberrant splicing with skipping of exon 4). Symptoms in NAM include congenital muscle weakness and contractures, progressive scoliosis, early ventilatory failure, a peculiar facial gestalt with mild ptosis and downturned corners of the mouth, short stature, and marked susceptibility to malignant hyperthermia. This case shows that NAM should also be considered in non-Indian patients with congenital myopathy, and suggests that STAC3 mutations should be taken into account as a potential cause of malignant hyperthermia.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Proteínas Adaptadoras de Transdução de Sinal
/
Doenças Musculares
/
Mutação
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Humans
/
Male
País como assunto:
Asia
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article