Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia.
Acta Myol
; 38(3): 163-171, 2019 Sep.
Article
en En
| MEDLINE
| ID: mdl-31788660
ABSTRACT
Limb-girdle muscular dystrophy (LGMD) type 2A (calpainopathy) is an autosomal recessive disease caused by mutation in the CAPN3 gene. The aim of this study was to examine genetic and phenotypic features of Serbian patients with calpainopathy. The study comprised 19 patients with genetically confirmed calpainopathy diagnosed at the Neurology Clinic, Clinical Center of Serbia and the Clinic for Neurology and Psychiatry for Children and Youth in Belgrade, Serbia during a ten-year period. Eighteen patients in this cohort had c.550delA mutation, with nine of them being homozygous. In majority of the patients, disease started in childhood or early adulthood. The disease affected shoulder girdle - upper arm and pelvic girdle - thigh muscles with similar frequency, with muscles of lower extremities being more severely impaired. Facial and bulbar muscles were spared. All patients in this cohort, except two, remained ambulant. None of the patients had cardiomyopathy, while 21% showed mild conduction defects. Respiratory function was mildly impaired in 21% of patients. Standard muscle histopathology showed myopathic and dystrophic pattern. In conclusion, the majority of Serbian LGMD2A patients have the same mutation and similar phenotype.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Calpaína
/
Distrofia Muscular de Cinturas
/
Proteínas Musculares
Límite:
Adolescent
/
Adult
/
Child
/
Female
/
Humans
/
Male
País/Región como asunto:
Europa
Idioma:
En
Revista:
Acta Myol
Asunto de la revista:
CARDIOLOGIA
/
FISIOLOGIA
Año:
2019
Tipo del documento:
Article
Pais de publicación:
IT
/
ITALIA
/
ITALY
/
ITÁLIA